Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Neurology - 25 Mar 2014

Baulac Stéphanie, Lenk Guy M, Dufresnois Béatrice, Ouled Amar Bencheikh Bouchra, Couarch Philippe, Renard Julie, Larson Peter A, Ferguson Cole J, Noé Eric, Poirier Karine, Hubans Christine, Ferreira Stéphanie, Guerrini Renzo, Ouazzani Reda, El Hachimi Khalid Hamid, Meisler Miriam H, Leguern Eric

Abstract excerpt

OBJECTIVE: The aim of this study was to identify the causal gene in a consanguineous Moroccan family with temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy, previously mapped to the 6q16-q22 region. METHODS: We used exome sequencing and analyzed candidate variants in the 6q16-q22 locus, as well as a rescue assay in Fig4-null mouse fibroblasts and immunohistochemistry of Fig4-null mouse...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosomes, Human, Pair 6
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Flavoproteins

Share to Malformations of Cortical Development

Share to Morocco

Share to Phosphoric Monoester Hydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 24598713
DOI: 10.1212/WNL.0000000000000241
PMCID: PMC3962989

Genes

FIG4

Variants

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.PMID 24598713Read ↗

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.Semantic proximity Read ↗

Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.Semantic proximity Read ↗

Novel FIG4 mutations in Yunis-Varon syndrome.Semantic proximity Read ↗

Protective role of the lipid phosphatase Fig4 in the adult nervous system.Semantic proximity Read ↗

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.Semantic proximity Read ↗

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.Semantic proximity Read ↗

PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.Semantic proximity Read ↗

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.Semantic proximity Read ↗

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.Semantic proximity Read ↗

T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.Semantic proximity Read ↗

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22.Semantic proximity Read ↗

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.