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Journal Article
Epilepsy Currents, ISSN 1535-7597, 5/2019, Volume 19, Issue 3, pp. 199 - 201
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias Helbig KL, Lauerer RJ,... 
Topiramate | Calcium channels | EEG | Epilepsy | Calcium channels (voltage-gated) | Central nervous system | Neurodevelopmental disorders | Antiepileptic agents | Convulsions & seizures | Next-generation sequencing | Calcium channels (R-type) | Synaptic transmission | Encephalopathy | Children | Movement disorders | Seizures | Current Literature in Basic Science
Journal Article
Epilepsy Currents, ISSN 1535-7597, 7/2019, Volume 19, Issue 4, pp. 269 - 271
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia... 
Sodium channels | Nestin | Neurons | Epilepsy | Forebrain | Lethality | Recombinase | Cre recombinase | Convulsions & seizures | Cell activation | Neurological complications | Encephalopathy | Sodium channels (voltage-gated) | Death | Mutation | Age | Seizures
Journal Article
Frontiers in molecular neuroscience, ISSN 1662-5099, 2018, Volume 11, p. 208
The chromodomain helicase DNA-binding (CHD) family of proteins are ATP-dependent chromatin remodelers that contribute to the reorganization of chromatin... 
Journal Article
Journal of Neurogenetics, ISSN 0167-7063, 10/2018, Volume 32, Issue 4, pp. 295 - 312
Journal Article
Epilepsy currents, ISSN 1535-7597, 07/2019, Volume 19, Issue 4, pp. 269 - 271
Bunton-Stasyshyn RKA, Wagnon JL, Wengert ER, Barker BS, Faulkner A, Wagley PK, Bhatia K, Jones JM, Maniaci MR, Parent JM, Goodkin HP, Patel MK, Meisler MH. .... 
SEIZURES | DRAVET SYNDROME | MOUSE MODEL | MUTATION | CHANNEL ISOFORM NACH6 | PATIENT | EPILEPSY | GABAERGIC NEURONS | CLINICAL NEUROLOGY
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2013, Volume 45, Issue 7, pp. 825 - 830
Journal Article
Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 10, pp. 1063 - 1071
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 808 - 815
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 287 - 298
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2018, Volume 378, Issue 17, pp. 1646 - 1648
In 10 of 120 family trios (consisting of a child with de novo epileptic encephalopathy and the child’s biologic parents), one parent was found to have... 
Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 5, pp. 480 - 489
Journal Article