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Article

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Neurology - 7 Jun 2016

Siekierska Aleksandra, Isrie Mala, Liu Yue, Scheldeman Chloë, Vanthillo Niels, Lagae Lieven, de Witte Peter A M, Van Esch Hilde, Goldfarb Mitchell, Buyse Gunnar M

Abstract excerpt

OBJECTIVE: Voltage-gated sodium channel (Nav)-encoding genes are among early-onset epileptic encephalopathies (EOEE) targets, suggesting that other genes encoding Nav-binding proteins, such as fibroblast growth factor homologous factors (FHFs), may also play roles in these disorders. METHODS: To identify additional genes for EOEE, we performed whole-exome sequencing in a family quintet with 2 siblings with a...

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Identifiers

PMID: 27164707
DOI: 10.1212/WNL.0000000000002752
PMCID: PMC4898311

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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