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Article

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

American journal of human genetics - 7 Dec 2012

Vuillaumier-Barrot Sandrine, Bouchet-Séraphin Céline, Chelbi Malika, Devisme Louise, Quentin Samuel, Gazal Steven, Laquerrière Annie, Fallet-Bianco Catherine, Loget Philippe, Odent Sylvie, Carles Dominique, Bazin Anne, Aziza Jacqueline, Clemenson Alix, Guimiot Fabien, Bonnière Maryse, Monnot Sophie, Bole-Feysot Christine, Bernard Jean-Pierre, Loeuillet Laurence, Gonzales Marie, Socha Koryna, Grandchamp Bernard, Attié-Bitach Tania, Encha-Razavi Férechté, Seta Nathalie

Abstract excerpt

Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a "cobblestone" brain surface and...

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Source

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Identifiers

PMID: 23217329
DOI: 10.1016/j.ajhg.2012.10.009
PMCID: PMC3516603

Genes

FKRP
FKTN
POMGNT1
POMT1
POMT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23217329-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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