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JAMA Neurology|August 29, 2017
Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual DisabilityFelippe Borlot, Brigid M Regan, Anne S Bassett, et al.
Neurology|August 3, 2014
Genetic analysis of PHOX2B in sudden unexpected death in epilepsy casesRichard D Bagnall, Douglas E Crompton, Carina Cutmore, et al.
Epilepsy Research|February 16, 2017
Real-world utility of whole exome sequencing with targeted gene analysis for focal epilepsyPiero Perucca, Ingrid E Scheffer, A Simon Harvey, et al.
Annals of Neurology|December 26, 2015
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsyRichard D Bagnall, Douglas E Crompton, Slavé Petrovski, et al.
Annals of Neurology|March 4, 2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsIngrid E Scheffer, Sarah E Heron, Brigid M Regan, et al.
Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Neurology. Genetics|April 12, 2016
Epileptic spasms are a feature of DEPDC5 mTORopathyGemma L Carvill, Douglas E Crompton, Brigid M Regan, et al.
American Journal of Medical Genetics. Part A|November 11, 2022
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndromeAndrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, et al.
Epilepsia|February 27, 2024
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsiesDeclan Gallagher, Eduardo Pérez-Palma, Tobias Bruenger, et al.
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