"Breath holding spells" in a child with SCN8A-related epilepsy: Expanding the clinical spectrum
1/23/2019
Article
SCN8A has a spectrum of phenotypes, a case of a seizures with an unclear
origin has expanded the spectrum. The 14-month-old girl was originally
diagnosed with episodes of reflex-anoxic seizures (non-epileptic) and
breath-holding spells after cessation of crying. The girl was discovered to
have a de novo mutation in the SCN8A gene, and a video-EEG suggests she was
experiencing generalized seizures. She now takes a mixture of phenobarbital,
levetiracetam, and oxcarbazepine, where the addition of oxcarbazepine caused
a drastic reduction in episodes then an open-ended seizure-free period.