Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report-Reference-Cited by-同舟云学术

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Long-term changes in electroencephalogram findings in a girl with a nonsense SMC1A variant: A case report

Published:2022-09 Issue:8 Volume:44 Page:551-557
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Hashimoto Kazuhiko,Baba Shimpei,Nakagawa Eiji,Sumitomo Noriko,Takeshita Eri,Shimizu-Motohashi Yuko,Ishiyama Akihiko,Saito Takashi,Abe-Hatano Chihiro,Inoue Ken,Iida Aritoshi,Sasaki Masayuki,Goto Yu-ichi

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference13 articles.

1. The multiple facets of the SMC1A gene;Musio;Gene,2020

2. X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations;Musio;Nat Genet,2006

3. Diagnosis and management of Cornelia de Lange syndrome: First international consensus statement;Kline;Nat Rev Genet,2018

4. Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases;Symonds;Epilepsia,2017

5. De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: Expanding the phenotypic spectrum;Jansen;Clin Genet,2016

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

2. Antiepileptic-drugs;Reactions Weekly;2022-11-05

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