Article
Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation.
Epilepsia - 1 Jun 2012
Writzl Karin, Primec Zvonka Rener, Stražišar Barbara Gnidovec, Osredkar Damjan, Pečarič-Meglič Nuška, Kranjc Branka Stirn, Nishiyama Kiyomi, Matsumoto Naomichi, Saitsu Hirotomo
Abstract excerpt
Recent study has shown that mutations in the alpha-II-spectrin (SPTAN1) gene cause early onset intractable seizures, severe developmental delay, diffuse hypomyelination, and widespread brain atrophy. We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. The patient presented with segmental myoclonic jerks at the age of 6 weeks, and...
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