Ragna S Boerma Kees P Braun Marcel P H van den Broek Frederique M C van Berkestijn Marielle E Swinkels Eveline O Hagebeuk Dick Lindhout Marjan van Kempen Maartje Boon Joost Nicolai Carolien G de Kovel Eva H Brilstra Bobby P C Koeleman
10.1007/s13311-015-0372-8
Neurotherapeutics
2016 Jan;13(1):192-7.
scn8a epileptic encephalopathy phenytoin sodium channel blockers
CC BY
https://pubmed.ncbi.nlm.nih.gov/26252990/
Anticonvulsants / therapeutic use Epilepsy / genetics NAV1.6 Voltage-Gated Sodium Channel / genetics Phenytoin / therapeutic use
Anticonvulsants / therapeutic use Epilepsy / genetics NAV1.6 Voltage-Gated Sodium Channel / genetics Phenytoin / therapeutic use Case Reports Research Support, Non-U.S. Gov't Child Child, Preschool Epilepsy / drug therapy Female Humans Male Mutation, Missense / genetics NAV1.6 Voltage-Gated Sodium Channel / drug effects Treatment Outcome Anticonvulsants NAV1.6 Voltage-Gated Sodium Channel SCN8A protein, human Phenytoin
PMC4720675
26252990
Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
2016