Open AccessPhenytoin as a last‐resort treatment in SCN 8A encephalopathy
Author(s) -
Braakman Hilde M.,
Verhoeven Judith S.,
Erasmus Corrie E.,
Haaxma Charlotte A.,
Willemsen Marjolein H.,
Schelhaas H. Jurgen
Publication year - 2017
Publication title -
epilepsia open
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.247
H-Index - 16
ISSN - 2470-9239
DOI - 10.1002/epi4.12059
Subject(s) - status epilepticus , phenytoin , levetiracetam , encephalopathy , medicine , zonisamide , ketogenic diet , adverse effect , anticonvulsant , anesthesia , sodium channel blocker , sodium channel , epilepsy , pharmacology , topiramate , pediatrics , chemistry , sodium , psychiatry , organic chemistry
Summary SCN 8A encodes Nav1.6, one of the main voltage‐gated sodium channel subunits in the brain, and SCN 8A mutations lead to epileptic encephalopathy. Particular mutations render the mutant channel more susceptible to inhibition by phenytoin. Yet, the potentially severe side effects of phenytoin maintenance therapy, especially cognitive impairment, are undesirable in these already cognitively impaired patients. We describe a 5‐year‐old patient with SCN 8A encephalopathy in whom phenytoin proved successful as emergency treatment to prevent clustering of seizures and status epilepticus, thus hospital stays. The ketogenic diet, levetiracetam, zonisamide, topiramate, and phenytoin maintenance therapy resulted in adverse reactions not previously documented in SCN 8A encephalopathy.