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Ingrid E Scheffer

Showing results (311-320 of 586) with videos related to

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Annals of Neurology|November 23, 2019
SCN1A Variants in vaccine-related febrile seizures: A prospective studyJohn A Damiano, Lucy Deng, Wenhui Li, et al.
Epilepsy Research|March 6, 2012
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutationsDaniel Carranza Rojo, A Simon Harvey, Xenia Iona, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Human Molecular Genetics|April 30, 2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsiesLeanne M Dibbens, Hua-Jun Feng, Michaella C Richards, et al.
Epilepsia|April 26, 2008
Gene expression analysis in absence epilepsy using a monozygotic twin designIngo Helbig, Nicholas A Matigian, Lata Vadlamudi, et al.
Brain : a Journal of Neurology|March 17, 2022
Atypical development of Broca's area in a large family with inherited stutteringDaisy G Y Thompson-Lake, Thomas S Scerri, Susan Block, et al.
Epilepsia|October 31, 2012
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiencyTodor Arsov, Saul A Mullen, John A Damiano, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an <i>SCN1A</i> poison exon in epilepsyHannah C Happ, Patricia N Schneider, Jung Hwa Hong, et al.
Epilepsy & Behavior : E&B|December 4, 2022
Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopmentKim I Bishop, Peter K Isquith, Gerard A Gioia, et al.
Annals of Neurology|December 10, 2013
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathyGökce Orhan, Merle Bock, Dorien Schepers, et al.
Pageof 59

Showing results (311-320 of 586) with videos related to

Sort By:
Pageof 59
Annals of Neurology|November 23, 2019
SCN1A Variants in vaccine-related febrile seizures: A prospective studyJohn A Damiano, Lucy Deng, Wenhui Li, et al.
Epilepsy Research|March 6, 2012
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutationsDaniel Carranza Rojo, A Simon Harvey, Xenia Iona, et al.
Neurology. Genetics|April 29, 2021
Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental DisorderKenneth A Myers, Carla Marini, Gemma L Carvill, et al.
Human Molecular Genetics|April 30, 2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsiesLeanne M Dibbens, Hua-Jun Feng, Michaella C Richards, et al.
Epilepsia|April 26, 2008
Gene expression analysis in absence epilepsy using a monozygotic twin designIngo Helbig, Nicholas A Matigian, Lata Vadlamudi, et al.
Brain : a Journal of Neurology|March 17, 2022
Atypical development of Broca's area in a large family with inherited stutteringDaisy G Y Thompson-Lake, Thomas S Scerri, Susan Block, et al.
Epilepsia|October 31, 2012
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiencyTodor Arsov, Saul A Mullen, John A Damiano, et al.
Biorxiv : the Preprint Server for Biology|May 19, 2023
Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an <i>SCN1A</i> poison exon in epilepsyHannah C Happ, Patricia N Schneider, Jung Hwa Hong, et al.
Epilepsy & Behavior : E&B|December 4, 2022
Fenfluramine treatment is associated with improvement in everyday executive function in preschool-aged children (<5 years) with Dravet syndrome: A critical period for early neurodevelopmentKim I Bishop, Peter K Isquith, Gerard A Gioia, et al.
Annals of Neurology|December 10, 2013
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathyGökce Orhan, Merle Bock, Dorien Schepers, et al.
Pageof 59