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Article

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.

Epilepsy research - 1 Oct 2014

Guerrero-López Rosa, Ortega-Moreno Laura, Giráldez Beatriz G, Alarcón-Morcillo Cristina, Sánchez-Martín Gema, Nieto-Barrera Manuel, Gutiérrez-Delicado Eva, Gómez-Garre Pilar, Martínez-Bermejo Antonio, García-Peñas Juan J, Serratosa José M

Abstract excerpt

A benign prognosis has been claimed in benign familial infantile seizures (BFIS). However, few studies have assessed the long-term evolution of these patients. The objective of this study is to describe atypical courses and presentations in BFIS families with mutations in PRRT2 gene. We studied clinically affected individuals from five BFIS Spanish families. We found mutations in PRRT2 in all 5 families. A...

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Source

Identifiers

PMID: 25060993
DOI: 10.1016/j.eplepsyres.2014.06.011

Genes

PRRT2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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