Article
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2023
Cossu Alberto, Santos Joana L, Galati Giulia, Nikanorova Marina, Costa Paola, Mang Yuan, Silahtaroglu Asli, Rubboli Guido, Tommerup Niels, Dalla Bernardina Bernardo, Møller Rikke S, Cantalupo Gaetano, Gardella Elena
Abstract excerpt
PURPOSE: Heterozygous variants in PRRT2 are mostly associated with benign phenotypes, being the major genetic cause of benign familial infantile seizures (BFIS), as well as in paroxysmal disorders. We report two children from unrelated families with BFIS that evolved to encephalopathy related to status epilepticus during sleep (ESES). METHODS AND RESULTS: Two probands presented with focal motor seizures at...
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