Article
Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.
Pediatric neurology - 1 Jul 2016
Byers Heather M, Beatty Christopher W, Hahn Si Houn, Gospe Sidney M
Abstract excerpt
BACKGROUND: Channelopathies are a group of monogenic disorders that affect a single ion channel and can result in neurological disease. While a rare cause of epilepsy, channelopathies offer unique insight to the molecular basis of epilepsy and treatment opportunities. Calcium homeostasis is tightly regulated by a series of interacting subunits. CACNA1A encodes the principal pore-forming subunit of the...
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