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Journal of Medical Genetics
|
September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Kim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Journal of Medical Genetics
|
November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.
Epilepsia
|
July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
John C Mulley, Bree Hodgson, Jacinta M McMahon, et al.
Annals of Neurology
|
October 17, 2019
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
Rosemary Burgess, Shuyu Wang, Amy McTague, et al.
Annals of Neurology
|
December 23, 2011
Rare copy number variants are an important cause of epileptic encephalopathies
Heather C Mefford, Simone C Yendle, Cynthia Hsu, et al.
Epilepsia
|
February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers
Sarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Brain Communications
|
February 15, 2021
Gain-of-function <i>GABRB3</i> variants identified in vigabatrin-hypersensitive epileptic encephalopathies
Nathan L Absalom, Vivian W Y Liao, Kavitha Kothur, et al.
Ebiomedicine
|
September 29, 2022
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids
Jingya Yan, Kavitha Kothur, Emily A Innes, et al.
Pediatrics
|
March 25, 2015
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome
Sekhar C Pillai, Yael Hacohen, Esther Tantsis, et al.
Brain : a Journal of Neurology
|
March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathies
Louise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Page
of 10
Search research articles
Search
Showing results (71-80 of 97) with videos related to
Sort By:
Page
of 10
Journal of Medical Genetics
|
September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Kim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Journal of Medical Genetics
|
November 23, 2013
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
John H Livingston, Jean-Pierre Lin, Russell C Dale, et al.
Epilepsia
|
July 31, 2013
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome
John C Mulley, Bree Hodgson, Jacinta M McMahon, et al.
Annals of Neurology
|
October 17, 2019
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures
Rosemary Burgess, Shuyu Wang, Amy McTague, et al.
Annals of Neurology
|
December 23, 2011
Rare copy number variants are an important cause of epileptic encephalopathies
Heather C Mefford, Simone C Yendle, Cynthia Hsu, et al.
Epilepsia
|
February 16, 2013
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers
Sarah Weckhuysen, Philip Holmgren, Rik Hendrickx, et al.
Brain Communications
|
February 15, 2021
Gain-of-function <i>GABRB3</i> variants identified in vigabatrin-hypersensitive epileptic encephalopathies
Nathan L Absalom, Vivian W Y Liao, Kavitha Kothur, et al.
Ebiomedicine
|
September 29, 2022
Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids
Jingya Yan, Kavitha Kothur, Emily A Innes, et al.
Pediatrics
|
March 25, 2015
Infectious and autoantibody-associated encephalitis: clinical features and long-term outcome
Sekhar C Pillai, Yael Hacohen, Esther Tantsis, et al.
Brain : a Journal of Neurology
|
March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathies
Louise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Page
of 10