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Epileptic encephalopathy with continuous spike‐and‐wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L
Author(s) -
Shaheen R.,
Al Tala S.,
Ewida N.,
Abouelhoda M.,
Alkuraya F.S.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12796
Subject(s) - ampa receptor , epilepsy , mutation , spike (software development) , encephalopathy , component (thermodynamics) , sleep (system call) , neuroscience , psychology , biology , computer science , receptor , genetics , psychiatry , glutamate receptor , physics , gene , software engineering , operating system , thermodynamics
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