Article
PRRT2 mutation causes benign familial infantile convulsions.
Neurology - 20 Nov 2012
de Vries Boukje, Callenbach Petra M C, Kamphorst Jessica T, Weller Claudia M, Koelewijn Stephany C, ten Houten Robert, de Coo Irenaeus F M, Brouwer Oebo F, van den Maagdenberg Arn M J M
Abstract excerpt
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited epilepsy syndrome with onset between 3 and 12 months of age. It is characterized by brief seizures with motor arrest, cyanosis, hypertonia, and limb jerks. Seizures respond well to antiepileptic drugs and remission occurs before the age of 3 years.(1) Several recent publications described heterozygous mutations in the proline-rich...
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