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Rare de novo mutations of sodium channels are thought to be an important cause of sporadic epilepsy. The well established role of de novo mutations of sodium channel SCN1A in Dravet Syndrome supports… (More)
Opinion statementMyotonia can be treated both pharmacologically and by lifestyle modifications. Cell membrane stabilizers are the medications most commonly used for symptomatic treatment of myotonia.… (More)
OBJECTIVE: To recognize monoparesis as a rare initial manifestation of Gitelman9s syndrome, thus encouraging evaluation of serum electrolytes in patients who present with monoparesis. BACKGROUND:… (More)
A female child with undiagnosed partial ornithine transcarbamylase deficiency suffered hyperammonemic coma after initiation of valproate for suspected seizures. Retrospec tive history and metabolic… (More)