A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity-Reference-Cited by-同舟云学术

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Published:2018-06-11 Issue:2 Volume:24 Page:241-251
ISSN:1359-4184
Container-title:Molecular Psychiatry
language:en
Short-container-title:Mol Psychiatry

Author:

Kolc Kristy L^ORCID,Sadleir Lynette G,Scheffer Ingrid E,Ivancevic Atma,Roberts Rachel^ORCID,Pham Duyen H,Gecz Jozef^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Molecular Biology

Link

http://www.nature.com/articles/s41380-018-0066-9.pdf

Reference59 articles.

1. Juberg RC, Hellman CD. A new familial form of convulsive disorder and mental retardation limited to females. J Pediatr. 1971;79:726–32.

2. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Nat Genet. 2008;40:776–81.

3. Scheffer IE, Turner SJ, Dibbens LM, Bayly MA, Friend K, Hodgson B, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain. 2008;131:918–27.

4. Depienne C, Bouteiller D, Keren B, Cheuret E, Poirier K, Trouillard O, et al. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet. 2009;5:e1000381.

5. Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, et al. PCDH19‐related epilepsy in two mosaic male patients. Epilepsia. 2016;57:e51–55.

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