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You searched for subject:(epileptic encephalopathy). Showing records 1 – 16 of 16 total matches.

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Vanderbilt University

1. Jorge, Benjamin S. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.

Degree: PhD, Neuroscience, 2014, Vanderbilt University

 Epilepsy is a common neurological disease characterized by an enduring predisposition to generate seizures. Although multiple factors contribute to epilepsy, the majority of cases are… (more)

Subjects/Keywords: potassium channel; epileptic encephalopathy; mouse model; genetics; whole-exome sequencing; epilepsy

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APA (6th Edition):

Jorge, B. S. (2014). Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. (Doctoral Dissertation). Vanderbilt University. Retrieved from http://hdl.handle.net/1803/14387

Chicago Manual of Style (16th Edition):

Jorge, Benjamin S. “Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.” 2014. Doctoral Dissertation, Vanderbilt University. Accessed January 15, 2021. http://hdl.handle.net/1803/14387.

MLA Handbook (7th Edition):

Jorge, Benjamin S. “Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility.” 2014. Web. 15 Jan 2021.

Vancouver:

Jorge BS. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. [Internet] [Doctoral dissertation]. Vanderbilt University; 2014. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1803/14387.

Council of Science Editors:

Jorge BS. Genetic Variation in the Voltage-gated Potassium Channel Genes KCNV2 and KCNB1 Contributes to Epilepsy Susceptibility. [Doctoral Dissertation]. Vanderbilt University; 2014. Available from: http://hdl.handle.net/1803/14387


University of Vermont

2. McCabe, Matthew. Altered Fast Synaptic Transmission in an in vitro Mouse Model of Epileptic Encephalopathy.

Degree: PhD, Neuroscience, 2020, University of Vermont

Epileptic encephalopathies (EEs) are severe seizure disorders that occur in infants and young children, characterized by developmental delay, and cognitive decline. Recent efforts have… (more)

Subjects/Keywords: Dynamin; Epilepsy; Epileptic encephalopathy; Inhibition; Synapse; Synaptic transmission; Neuroscience and Neurobiology

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APA (6th Edition):

McCabe, M. (2020). Altered Fast Synaptic Transmission in an in vitro Mouse Model of Epileptic Encephalopathy. (Doctoral Dissertation). University of Vermont. Retrieved from https://scholarworks.uvm.edu/graddis/1308

Chicago Manual of Style (16th Edition):

McCabe, Matthew. “Altered Fast Synaptic Transmission in an in vitro Mouse Model of Epileptic Encephalopathy.” 2020. Doctoral Dissertation, University of Vermont. Accessed January 15, 2021. https://scholarworks.uvm.edu/graddis/1308.

MLA Handbook (7th Edition):

McCabe, Matthew. “Altered Fast Synaptic Transmission in an in vitro Mouse Model of Epileptic Encephalopathy.” 2020. Web. 15 Jan 2021.

Vancouver:

McCabe M. Altered Fast Synaptic Transmission in an in vitro Mouse Model of Epileptic Encephalopathy. [Internet] [Doctoral dissertation]. University of Vermont; 2020. [cited 2021 Jan 15]. Available from: https://scholarworks.uvm.edu/graddis/1308.

Council of Science Editors:

McCabe M. Altered Fast Synaptic Transmission in an in vitro Mouse Model of Epileptic Encephalopathy. [Doctoral Dissertation]. University of Vermont; 2020. Available from: https://scholarworks.uvm.edu/graddis/1308


University of New South Wales

3. Palmer, Elizabeth. Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies.

Degree: Women's & Children's Health, 2019, University of New South Wales

 Developmental and Epileptic Encephalopathies (DEE) are characterised by severe early-onset seizures and have poor developmental outcomes, significant co-morbidities, premature mortality and substantial psychosocial and economic… (more)

Subjects/Keywords: Epileptic encephalopathy; Genomics; Epilepsy; Exome; Whole genome sequencing

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APA (6th Edition):

Palmer, E. (2019). Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies. (Doctoral Dissertation). University of New South Wales. Retrieved from http://handle.unsw.edu.au/1959.4/64866

Chicago Manual of Style (16th Edition):

Palmer, Elizabeth. “Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies.” 2019. Doctoral Dissertation, University of New South Wales. Accessed January 15, 2021. http://handle.unsw.edu.au/1959.4/64866.

MLA Handbook (7th Edition):

Palmer, Elizabeth. “Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies.” 2019. Web. 15 Jan 2021.

Vancouver:

Palmer E. Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies. [Internet] [Doctoral dissertation]. University of New South Wales; 2019. [cited 2021 Jan 15]. Available from: http://handle.unsw.edu.au/1959.4/64866.

Council of Science Editors:

Palmer E. Application of massively parallel sequencing for the diagnosis of developmental and epileptic encephalopathies. [Doctoral Dissertation]. University of New South Wales; 2019. Available from: http://handle.unsw.edu.au/1959.4/64866

4. Winters, Jesse. Form and Function in the Scn1b-null Cerebellar Cortex: Implications for Epileptic Encephalopathy.

Degree: PhD, Neuroscience, 2017, University of Michigan

 Dravet syndrome is a catastrophic, pediatric epileptic encephalopathy which is caused by genetic mutations is voltage-gated Na+ channel (VGSC) subunit genes. In addition to severe… (more)

Subjects/Keywords: Dravet syndrome; SCN1B; Scn1b-null mouse; epileptic encephalopathy; cerebellar cortex; Purkinje cell; Neurosciences; Health Sciences

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APA (6th Edition):

Winters, J. (2017). Form and Function in the Scn1b-null Cerebellar Cortex: Implications for Epileptic Encephalopathy. (Doctoral Dissertation). University of Michigan. Retrieved from http://hdl.handle.net/2027.42/137004

Chicago Manual of Style (16th Edition):

Winters, Jesse. “Form and Function in the Scn1b-null Cerebellar Cortex: Implications for Epileptic Encephalopathy.” 2017. Doctoral Dissertation, University of Michigan. Accessed January 15, 2021. http://hdl.handle.net/2027.42/137004.

MLA Handbook (7th Edition):

Winters, Jesse. “Form and Function in the Scn1b-null Cerebellar Cortex: Implications for Epileptic Encephalopathy.” 2017. Web. 15 Jan 2021.

Vancouver:

Winters J. Form and Function in the Scn1b-null Cerebellar Cortex: Implications for Epileptic Encephalopathy. [Internet] [Doctoral dissertation]. University of Michigan; 2017. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2027.42/137004.

Council of Science Editors:

Winters J. Form and Function in the Scn1b-null Cerebellar Cortex: Implications for Epileptic Encephalopathy. [Doctoral Dissertation]. University of Michigan; 2017. Available from: http://hdl.handle.net/2027.42/137004


Brandeis University

5. Feinbaum, Rhonda. Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?.

Degree: 2018, Brandeis University

Epileptic encephalopathies are a group of severe childhood disorders characterized by seizures and cognitive and developmental deficits. Genetic testing is frequently used in the diagnosis… (more)

Subjects/Keywords: epileptic encephalopathy; pediatric epilepsy; genetic testing; parent experience; genetic counselor; understanding; family

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APA (6th Edition):

Feinbaum, R. (2018). Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/35681

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Feinbaum, Rhonda. “Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?.” 2018. Thesis, Brandeis University. Accessed January 15, 2021. http://hdl.handle.net/10192/35681.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Feinbaum, Rhonda. “Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?.” 2018. Web. 15 Jan 2021.

Vancouver:

Feinbaum R. Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?. [Internet] [Thesis]. Brandeis University; 2018. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10192/35681.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Feinbaum R. Parent Experience with Genetic Testing for Pediatric Epileptic Encephalopathy: What Can We Do Better?. [Thesis]. Brandeis University; 2018. Available from: http://hdl.handle.net/10192/35681

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


University of Oulu

6. Komulainen-Ebrahim, J. (Jonna). Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders.

Degree: 2019, University of Oulu

Abstract Novel genetic aetiologies for epileptic encephalopathies and movement disorders have been discovered by using next-generation sequencing methods. The phenotypic and genotypic variability in these… (more)

Subjects/Keywords: children; epileptic encephalopathy; genes; movement disorder; personalised medicine; whole-exome sequencing; epileptinen enkefalopatia; geenit; lapset; liikehäiriö; yksilöity terveydenhoito

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APA (6th Edition):

Komulainen-Ebrahim, J. (. (2019). Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders. (Doctoral Dissertation). University of Oulu. Retrieved from http://urn.fi/urn:isbn:9789526222356

Chicago Manual of Style (16th Edition):

Komulainen-Ebrahim, J (Jonna). “Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders.” 2019. Doctoral Dissertation, University of Oulu. Accessed January 15, 2021. http://urn.fi/urn:isbn:9789526222356.

MLA Handbook (7th Edition):

Komulainen-Ebrahim, J (Jonna). “Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders.” 2019. Web. 15 Jan 2021.

Vancouver:

Komulainen-Ebrahim J(. Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders. [Internet] [Doctoral dissertation]. University of Oulu; 2019. [cited 2021 Jan 15]. Available from: http://urn.fi/urn:isbn:9789526222356.

Council of Science Editors:

Komulainen-Ebrahim J(. Genetic aetiologies and phenotypic variations of childhood-onset epileptic encephalopathies and movement disorders. [Doctoral Dissertation]. University of Oulu; 2019. Available from: http://urn.fi/urn:isbn:9789526222356


University of Melbourne

7. Burbano Portilla, Lisseth Estefania. Antisense oligonucleotide precision therapy in KCNT1 - severe epilepsy.

Degree: 2019, University of Melbourne

 In recent years, the advancement of sequencing technology used in conjunction with thorough clinical evaluation has enabled clinicians to attribute genetic factors to the etiology… (more)

Subjects/Keywords: Epilepsy; Genetics; Epileptic Encephalopathy; KCNT1; Antisense oligonucleotides; Precision therapy; Epilepsy of infancy with migrating focal seizures; Mouse model

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APA (6th Edition):

Burbano Portilla, L. E. (2019). Antisense oligonucleotide precision therapy in KCNT1 - severe epilepsy. (Doctoral Dissertation). University of Melbourne. Retrieved from http://hdl.handle.net/11343/234065

Chicago Manual of Style (16th Edition):

Burbano Portilla, Lisseth Estefania. “Antisense oligonucleotide precision therapy in KCNT1 - severe epilepsy.” 2019. Doctoral Dissertation, University of Melbourne. Accessed January 15, 2021. http://hdl.handle.net/11343/234065.

MLA Handbook (7th Edition):

Burbano Portilla, Lisseth Estefania. “Antisense oligonucleotide precision therapy in KCNT1 - severe epilepsy.” 2019. Web. 15 Jan 2021.

Vancouver:

Burbano Portilla LE. Antisense oligonucleotide precision therapy in KCNT1 - severe epilepsy. [Internet] [Doctoral dissertation]. University of Melbourne; 2019. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/11343/234065.

Council of Science Editors:

Burbano Portilla LE. Antisense oligonucleotide precision therapy in KCNT1 - severe epilepsy. [Doctoral Dissertation]. University of Melbourne; 2019. Available from: http://hdl.handle.net/11343/234065

8. Kuchenbuch, Mathieu. Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson : Computational modeling of epilepsy in infancy with migrating focal seizures.

Degree: Docteur es, Analyse et traitement de l'information et des images médicales, 2019, Rennes 1

L’épilepsie avec crises focales migrantes du nourrisson se caractérise par l’apparition de crises focales avant 6 mois qui s’intensifient jusqu’à une phase d’orage où il… (more)

Subjects/Keywords: Encéphalopathie épileptique; Kcnt1; Modélisation computationnelle; Masses neurales; Épilepsie de l'enfant; Epileptic encephalopathy; Kcnt1; Computational modelling; Neural masses; Outcome; Eeg

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APA (6th Edition):

Kuchenbuch, M. (2019). Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson : Computational modeling of epilepsy in infancy with migrating focal seizures. (Doctoral Dissertation). Rennes 1. Retrieved from http://www.theses.fr/2019REN1B062

Chicago Manual of Style (16th Edition):

Kuchenbuch, Mathieu. “Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson : Computational modeling of epilepsy in infancy with migrating focal seizures.” 2019. Doctoral Dissertation, Rennes 1. Accessed January 15, 2021. http://www.theses.fr/2019REN1B062.

MLA Handbook (7th Edition):

Kuchenbuch, Mathieu. “Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson : Computational modeling of epilepsy in infancy with migrating focal seizures.” 2019. Web. 15 Jan 2021.

Vancouver:

Kuchenbuch M. Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson : Computational modeling of epilepsy in infancy with migrating focal seizures. [Internet] [Doctoral dissertation]. Rennes 1; 2019. [cited 2021 Jan 15]. Available from: http://www.theses.fr/2019REN1B062.

Council of Science Editors:

Kuchenbuch M. Modélisation computationelle de l'épilepsie avec crises focales migrantes du nourrisson : Computational modeling of epilepsy in infancy with migrating focal seizures. [Doctoral Dissertation]. Rennes 1; 2019. Available from: http://www.theses.fr/2019REN1B062

9. Abidi, Affef. Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2 : Contribution to the study of early onset epileptic encephalopathies : research of new genetic causes and functional study of mutations in the KCNQ2 gene.

Degree: Docteur es, Pathologie humaine. Génétique humaine, 2016, Aix Marseille Université

Les Encéphalopathies Épileptiques Précoces sont des pathologies rares et sévères caractérisées par des crises fréquentes commençant dans les trois premiers mois de vie accompagnées d’un… (more)

Subjects/Keywords: Encéphalopathie épileptique précoce; Nouveau-Né; Syndrome d'Ohtahara; Kcnq2; Wdr45; Suppression-Burst; Early onset epileptic encephalopathy; Neonate; Ohtahara syndrome; Kcnq2; Wdr45; Suppression-Burst

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APA (6th Edition):

Abidi, A. (2016). Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2 : Contribution to the study of early onset epileptic encephalopathies : research of new genetic causes and functional study of mutations in the KCNQ2 gene. (Doctoral Dissertation). Aix Marseille Université. Retrieved from http://www.theses.fr/2016AIXM5009

Chicago Manual of Style (16th Edition):

Abidi, Affef. “Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2 : Contribution to the study of early onset epileptic encephalopathies : research of new genetic causes and functional study of mutations in the KCNQ2 gene.” 2016. Doctoral Dissertation, Aix Marseille Université. Accessed January 15, 2021. http://www.theses.fr/2016AIXM5009.

MLA Handbook (7th Edition):

Abidi, Affef. “Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2 : Contribution to the study of early onset epileptic encephalopathies : research of new genetic causes and functional study of mutations in the KCNQ2 gene.” 2016. Web. 15 Jan 2021.

Vancouver:

Abidi A. Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2 : Contribution to the study of early onset epileptic encephalopathies : research of new genetic causes and functional study of mutations in the KCNQ2 gene. [Internet] [Doctoral dissertation]. Aix Marseille Université 2016. [cited 2021 Jan 15]. Available from: http://www.theses.fr/2016AIXM5009.

Council of Science Editors:

Abidi A. Contribution à l'étude des encéphalopathies épileptiques précoces : recherche de nouvelles causes génétiques & caractérisation fonctionnelle des mutations du gène KCNQ2 : Contribution to the study of early onset epileptic encephalopathies : research of new genetic causes and functional study of mutations in the KCNQ2 gene. [Doctoral Dissertation]. Aix Marseille Université 2016. Available from: http://www.theses.fr/2016AIXM5009


Université de Lorraine

10. Huynh, Minh Tuan. Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle : Contribution of chromosome analysis on different DNA Micro-Arrays in the identification of novel mutations and characterization of candidate genes involved in intellectual disability.

Degree: Docteur es, Sciences de la vie et de la santé, 2013, Université de Lorraine

Anomalies de structure du génome et Déficience Intellectuelle : Recherche des gènes candidats de Déficience intellectuelle en utilisant l'analyse chromosomique sur microréseau d'ADN pangénomique 180K… (more)

Subjects/Keywords: Array CGH; Déficience Intellectuelle; Encéphalopathie épileptique infantile; Syndrome de Mowat-Wilson - KBG; Array CGH; Intellectual Deficiency; Candidate Genes; Infantile epileptic encephalopathy; Mowat-wilson / KBG syndrome; 572.87; 616.858 8

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APA (6th Edition):

Huynh, M. T. (2013). Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle : Contribution of chromosome analysis on different DNA Micro-Arrays in the identification of novel mutations and characterization of candidate genes involved in intellectual disability. (Doctoral Dissertation). Université de Lorraine. Retrieved from http://www.theses.fr/2013LORR0129

Chicago Manual of Style (16th Edition):

Huynh, Minh Tuan. “Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle : Contribution of chromosome analysis on different DNA Micro-Arrays in the identification of novel mutations and characterization of candidate genes involved in intellectual disability.” 2013. Doctoral Dissertation, Université de Lorraine. Accessed January 15, 2021. http://www.theses.fr/2013LORR0129.

MLA Handbook (7th Edition):

Huynh, Minh Tuan. “Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle : Contribution of chromosome analysis on different DNA Micro-Arrays in the identification of novel mutations and characterization of candidate genes involved in intellectual disability.” 2013. Web. 15 Jan 2021.

Vancouver:

Huynh MT. Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle : Contribution of chromosome analysis on different DNA Micro-Arrays in the identification of novel mutations and characterization of candidate genes involved in intellectual disability. [Internet] [Doctoral dissertation]. Université de Lorraine; 2013. [cited 2021 Jan 15]. Available from: http://www.theses.fr/2013LORR0129.

Council of Science Editors:

Huynh MT. Apport de l'analyse chromosomique sur différents microréseaux d'ADN dans l'identification de nouvelles mutations et la caractérisation de gènes candidats impliqués dans la déficience intellectuelle : Contribution of chromosome analysis on different DNA Micro-Arrays in the identification of novel mutations and characterization of candidate genes involved in intellectual disability. [Doctoral Dissertation]. Université de Lorraine; 2013. Available from: http://www.theses.fr/2013LORR0129


University of Adelaide

11. Kolc, Kristy Louise. Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics".

Degree: 2020, University of Adelaide

 Girls Clustering Epilepsy is the second most common developmental and epileptic encephalopathy. GCE is due to variants in the X chromosome gene PCDH19 and is… (more)

Subjects/Keywords: X-linked clustering epilepsy; PCDH19; cellular mosaicism; X-chromosome inactivation; genetic; developmental and epileptic encephalopathy; autism spectrum disorder; attention-deficit hyperactivity disorder; executive dysfunction; obsessive-compulsive disorder

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APA (6th Edition):

Kolc, K. L. (2020). Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics". (Thesis). University of Adelaide. Retrieved from http://hdl.handle.net/2440/126965

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Kolc, Kristy Louise. “Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics".” 2020. Thesis, University of Adelaide. Accessed January 15, 2021. http://hdl.handle.net/2440/126965.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Kolc, Kristy Louise. “Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics".” 2020. Web. 15 Jan 2021.

Vancouver:

Kolc KL. Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics". [Internet] [Thesis]. University of Adelaide; 2020. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/2440/126965.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Kolc KL. Variable Clinical and Molecular Expressivity of PCDH19 Variants and Girls Clustering Epilepsy A disorder of cellular "mosaics". [Thesis]. University of Adelaide; 2020. Available from: http://hdl.handle.net/2440/126965

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

12. CELIA LAURELINE AGNES BOSSO-LEFEVRE. LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY.

Degree: 2020, National University of Singapore

Subjects/Keywords: UGDH; cerebral organoids; epileptic encephalopathy; zebrafish; cerebral development; extracellular matrix

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APA (6th Edition):

BOSSO-LEFEVRE, C. L. A. (2020). LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY. (Thesis). National University of Singapore. Retrieved from https://scholarbank.nus.edu.sg/handle/10635/176340

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

BOSSO-LEFEVRE, CELIA LAURELINE AGNES. “LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY.” 2020. Thesis, National University of Singapore. Accessed January 15, 2021. https://scholarbank.nus.edu.sg/handle/10635/176340.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

BOSSO-LEFEVRE, CELIA LAURELINE AGNES. “LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY.” 2020. Web. 15 Jan 2021.

Vancouver:

BOSSO-LEFEVRE CLA. LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY. [Internet] [Thesis]. National University of Singapore; 2020. [cited 2021 Jan 15]. Available from: https://scholarbank.nus.edu.sg/handle/10635/176340.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

BOSSO-LEFEVRE CLA. LOSS-OF-FUNCTION MUTATIONS IN UDP-GLUCOSE 6-DEHYDROGENASE CAUSE RECESSIVE DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY. [Thesis]. National University of Singapore; 2020. Available from: https://scholarbank.nus.edu.sg/handle/10635/176340

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

13. Ruzzo, Elizabeth Kathryn. Identification and Characterization of Pathogenic Mutations in Neurodevelopmental Disorders Discovered by Next-Generation Sequencing .

Degree: 2014, Duke University

  Neurodevelopmental disorders develop over time and are characterized by a wide variety of mental, behavioral, and physical phenotypes. The categorization of neurodevelopmental disorders encompasses… (more)

Subjects/Keywords: Genetics; Medicine; ASNS; epilepsy; epileptic encephalopathy; neurodevelopmental disorders; next-generation sequencing

…associated!with!epileptic!encephalopathy… …153! 4.3.2!Recurrently!mutated!genes!in!these!epileptic!encephalopathy!patients… …158! 4.3.4!Other!highly!penetrant!genotypes!in!epileptic!encephalopathy!patients!.......!160… …4.3.5!Cross>study!validation!of!genes!previously!associated!with!epileptic! encephalopathy… …Progressive!Form!of!Encephalopathy… 

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APA (6th Edition):

Ruzzo, E. K. (2014). Identification and Characterization of Pathogenic Mutations in Neurodevelopmental Disorders Discovered by Next-Generation Sequencing . (Thesis). Duke University. Retrieved from http://hdl.handle.net/10161/8784

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Ruzzo, Elizabeth Kathryn. “Identification and Characterization of Pathogenic Mutations in Neurodevelopmental Disorders Discovered by Next-Generation Sequencing .” 2014. Thesis, Duke University. Accessed January 15, 2021. http://hdl.handle.net/10161/8784.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Ruzzo, Elizabeth Kathryn. “Identification and Characterization of Pathogenic Mutations in Neurodevelopmental Disorders Discovered by Next-Generation Sequencing .” 2014. Web. 15 Jan 2021.

Vancouver:

Ruzzo EK. Identification and Characterization of Pathogenic Mutations in Neurodevelopmental Disorders Discovered by Next-Generation Sequencing . [Internet] [Thesis]. Duke University; 2014. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/10161/8784.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Ruzzo EK. Identification and Characterization of Pathogenic Mutations in Neurodevelopmental Disorders Discovered by Next-Generation Sequencing . [Thesis]. Duke University; 2014. Available from: http://hdl.handle.net/10161/8784

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

14. Cloutier, Véronique. Criblage génétique et caractérisation fonctionnelle des mutations dans le gène CHD2 associé à l’épilepsie dans un modèle de poisson zèbre.

Degree: 2018, Université de Montréal

Subjects/Keywords: épilepsie; encéphalopathie épileptique; photosensibilité; CHD2; poisson zèbre; criblage génétique; Morpholino; CRISPR-Cas9; epilepsy; epileptic encephalopathy; photosensitivity; zebrafish; genetic screening; Biology - Genetics / Biologie - Génétique (UMI : 0369)

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APA (6th Edition):

Cloutier, V. (2018). Criblage génétique et caractérisation fonctionnelle des mutations dans le gène CHD2 associé à l’épilepsie dans un modèle de poisson zèbre. (Thesis). Université de Montréal. Retrieved from http://hdl.handle.net/1866/21388

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Cloutier, Véronique. “Criblage génétique et caractérisation fonctionnelle des mutations dans le gène CHD2 associé à l’épilepsie dans un modèle de poisson zèbre.” 2018. Thesis, Université de Montréal. Accessed January 15, 2021. http://hdl.handle.net/1866/21388.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Cloutier, Véronique. “Criblage génétique et caractérisation fonctionnelle des mutations dans le gène CHD2 associé à l’épilepsie dans un modèle de poisson zèbre.” 2018. Web. 15 Jan 2021.

Vancouver:

Cloutier V. Criblage génétique et caractérisation fonctionnelle des mutations dans le gène CHD2 associé à l’épilepsie dans un modèle de poisson zèbre. [Internet] [Thesis]. Université de Montréal; 2018. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1866/21388.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Cloutier V. Criblage génétique et caractérisation fonctionnelle des mutations dans le gène CHD2 associé à l’épilepsie dans un modèle de poisson zèbre. [Thesis]. Université de Montréal; 2018. Available from: http://hdl.handle.net/1866/21388

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Université de Montréal

15. Marcoux, Lydia. Investigation du rôle de Myo9b dans la migration des interneurones GABAergiques corticaux.

Degree: 2016, Université de Montréal

Subjects/Keywords: Myo9b; Myosine IXb; migration tangentielle; interneurones GABAergiques; épilepsie; encéphalopathie épileptogène; cytosquelette; actine; tubuline; tangential migration; GABAergic interneurons; epileptic encephalopathy; epilepsy; cytoskeleton; actin; tubulin; Biology - Molecular / Biologie - Biologie moléculaire (UMI : 0307)

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Marcoux, L. (2016). Investigation du rôle de Myo9b dans la migration des interneurones GABAergiques corticaux. (Thesis). Université de Montréal. Retrieved from http://hdl.handle.net/1866/13860

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Marcoux, Lydia. “Investigation du rôle de Myo9b dans la migration des interneurones GABAergiques corticaux.” 2016. Thesis, Université de Montréal. Accessed January 15, 2021. http://hdl.handle.net/1866/13860.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Marcoux, Lydia. “Investigation du rôle de Myo9b dans la migration des interneurones GABAergiques corticaux.” 2016. Web. 15 Jan 2021.

Vancouver:

Marcoux L. Investigation du rôle de Myo9b dans la migration des interneurones GABAergiques corticaux. [Internet] [Thesis]. Université de Montréal; 2016. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1866/13860.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Marcoux L. Investigation du rôle de Myo9b dans la migration des interneurones GABAergiques corticaux. [Thesis]. Université de Montréal; 2016. Available from: http://hdl.handle.net/1866/13860

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

16. Bitton, Jonathan Y. Implications des spasmes infantiles sur le neurodéveloppement des enfants.

Degree: 2017, Université de Montréal

Subjects/Keywords: Infantile spasms; West syndrome; Neurodevelopmental outcome; Cognition; Autism spectrum disorders; Vigabatrin; Adrenocorticotropic hormone; Epileptic encephalopathy; Hypsarrhythmia; Developmental quotient; Spasmes infantiles; Syndrome de West; Neurodéveloppement; Cognition; Troubles du spectre autistique; Vigabatrin; Hormone corticotrope; Encéphalopathie épileptique; Hypsarythmie; Quotient de développement; Health Sciences - Medicine and Surgery / Sciences de la santé - Médecine et chirurgie (UMI : 0564)

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APA · Chicago · MLA · Vancouver · CSE | Export to Zotero / EndNote / Reference Manager

APA (6th Edition):

Bitton, J. Y. (2017). Implications des spasmes infantiles sur le neurodéveloppement des enfants. (Thesis). Université de Montréal. Retrieved from http://hdl.handle.net/1866/18576

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Bitton, Jonathan Y. “Implications des spasmes infantiles sur le neurodéveloppement des enfants.” 2017. Thesis, Université de Montréal. Accessed January 15, 2021. http://hdl.handle.net/1866/18576.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Bitton, Jonathan Y. “Implications des spasmes infantiles sur le neurodéveloppement des enfants.” 2017. Web. 15 Jan 2021.

Vancouver:

Bitton JY. Implications des spasmes infantiles sur le neurodéveloppement des enfants. [Internet] [Thesis]. Université de Montréal; 2017. [cited 2021 Jan 15]. Available from: http://hdl.handle.net/1866/18576.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Bitton JY. Implications des spasmes infantiles sur le neurodéveloppement des enfants. [Thesis]. Université de Montréal; 2017. Available from: http://hdl.handle.net/1866/18576

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

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