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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 SCN1A 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.Brain : a Journal of Neurology|April 21, 2010
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patientsRichard J Leventer, Anna Jansen, Daniela T Pilz, et al.Nature Genetics|October 23, 2012
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsySarah E Heron, Katherine R Smith, Melanie Bahlo, et al.Genetics in Medicine Open|December 13, 2024
Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartomaTimothy E Green, Mark F Bennett, Ilka Immisch, et al.Pageof 67