Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 3076-3081

  Lebrun, Nicolas ^a,b,c   Lebon, Sébastien ^d   Jeannet, Pierre Yves ^d   Jacquemont, Sébastien ^e   Billuart, Pierre ^a,b,c   Bienvenu, Thierry ^a,b,c,f  

^a INSTITUT COCHIN   (France)

^b CNRS   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^e UNIVERSITY OF MONTREAL   (Canada)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Cornelia de lange syndrome; Epileptic encephalopathy; SMC1A mutations; Splice mutation

Indexed keywords

MESSENGER RNA; CELL CYCLE PROTEIN; NONHISTONE PROTEIN; RNA SPLICING; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ANTHROPOMETRY; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; DE LANGE SYNDROME; DISEASE SEVERITY; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EPILEPSY; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GENE; GENE MUTATION; GROWTH RETARDATION; HUMAN; HUMAN CELL; INTELLECTUAL IMPAIRMENT; INTRON; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SCOLIOSIS; SMC1A GENE; SPLICE SITE MUTATION; BRAIN DISEASES; GENETICS; MUTATION; NEWBORN; ONSET AGE; PROGNOSIS; REAL TIME POLYMERASE CHAIN REACTION; RNA SPLICING;

AGE OF ONSET; BRAIN DISEASES; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; EPILEPSY; FEMALE; HUMANS; INFANT, NEWBORN; MUTATION; PHENOTYPE; PROGNOSIS; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER;

EID: 84959334714     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37364     Document Type: Article

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