De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum

Clinical Genetics

Volumn 90, Issue 5, 2016, Pages 413-419

  Jansen, S ^a   Kleefstra, T ^a   Willemsen, M H ^a   de Vries, P ^a   Pfundt, R ^a   Hehir Kwa, J Y ^a   Gilissen, C ^a   Veltman, J A ^a,b   de Vries, B B A ^a   Vissers, L E L M ^a  

^a RADBOUD UNIVERSITY   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cornelia de Lange syndrome; epilepsy; intellectual disability; loss of function; SMC1A

Indexed keywords

CARBAMAZEPINE; CARNITINE; CLOBAZAM; CLONAZEPAM; LAMOTRIGINE; LEVETIRACETAM; MESSENGER RNA; OXCARBAZEPINE; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; TOPIRAMATE; VALPROIC ACID; VIGABATRIN; CELL CYCLE PROTEIN; NONHISTONE PROTEIN; STRUCTURAL MAINTENANCE OF CHROMOSOME PROTEIN 1;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTOGENESIS; FEMALE; FOOT MALFORMATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; HAND MALFORMATION; HUMAN; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MIDDLE AGED; MUSCLE HYPOTONIA; PHENOTYPE; PRIORITY JOURNAL; RNA SPLICING; SMC1A GENE; SPEECH DELAY; X CHROMOSOME INACTIVATION; DE LANGE SYNDROME; DRUG RESISTANCE; EXON; GENETICS; MALE; PATHOPHYSIOLOGY; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; DE LANGE SYNDROME; DRUG RESISTANCE; EPILEPSY; EXONS; FEMALE; GENES, X-LINKED; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; PHENOTYPE; RNA, MESSENGER; SEQUENCE DELETION;

EID: 84959178712     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12729     Document Type: Article

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