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Article

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.

American journal of human genetics - 10 Sept 2010

Falace Antonio, Filipello Fabia, La Padula Veronica, Vanni Nicola, Madia Francesca, De Pietri Tonelli Davide, de Falco Fabrizio A, Striano Pasquale, Dagna Bricarelli Franca, Minetti Carlo, Benfenati Fabio, Fassio Anna, Zara Federico

Abstract excerpt

Idiopathic epilepsies (IEs) are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. We previously described a large family with a recessive form of idiopathic epilepsy, named...

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Share to ADP-Ribosylation Factor 6
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20727515
DOI: 10.1016/j.ajhg.2010.07.020
PMCID: PMC2933335

Genes

ARF6

Provenance

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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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.PMID 20727515Read ↗

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