Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia

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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Am J Hum Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2017
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339289/
https://ncbi.nlm.nih.gov/pubmed/28215400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.01.030
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky