المؤلفون: Saitsu H; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan. hsaitsu@yokohama-cu.ac.jp, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N

المصدر: Nature genetics [Nat Genet] 2013 Apr; Vol. 45 (4), pp. 445-9, 449e1. Date of Electronic Publication: 2013 Feb 24.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

مواضيع طبية MeSH: Autophagy*, Carrier Proteins/*genetics , Exome/*genetics , Intellectual Disability/*etiology , Mutation/*genetics , Neurodegenerative Diseases/*etiology , Spasms, Infantile/*etiology, Adult ; Child ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Iron/metabolism ; Lennox Gastaut Syndrome ; Magnetic Resonance Imaging ; Phenotype

SCR Disease Name: Epileptic encephalopathy, Lennox-Gastaut type