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Article

Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

American journal of human genetics - 2 Mar 2017

Lim Jae Seok, Gopalappa Ramu, Kim Se Hoon, Ramakrishna Suresh, Lee Minji, Kim Woo-Il, Kim Junho, Park Sang Min, Lee Junehawk, Oh Jung-Hwa, Kim Heung Dong, Park Chang-Hwan, Lee Joon Soo, Kim Sangwoo, Kim Dong Seok, Han Jung Min, Kang Hoon-Chul, Kim Hyongbum Henry, Lee Jeong Ho

Abstract excerpt

Focal cortical dysplasia (FCD) is a major cause of the sporadic form of intractable focal epilepsies that require surgical treatment. It has recently been reported that brain somatic mutations in MTOR account for 15%-25% of FCD type II (FCDII), characterized by cortical dyslamination and dysmorphic neurons. However, the genetic etiologies of FCDII-affected individuals who lack the MTOR mutation remain unclear....

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Source

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Identifiers

PMID: 28215400
DOI: 10.1016/j.ajhg.2017.01.030
PMCID: PMC5339289

Genes

TSC1
TSC2
MTOR
AKT3

Variants

Provenance

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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.PMID 28215400Read ↗

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Somatic mutation involving diverse genes leads to a spectrum of focal cortical malformationsSemantic proximity Read ↗

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