New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy

American Journal of Medical Genetics, Part A

Volumn 173, Issue 1, 2017, Pages 195-199

  Tang, S ^a,b   Hughes, E ^b   Lascelles, K ^b   Simpson, M A ^a   Pal, D K ^a,b,c   Marini, Carla ^c   Guerrini, Renzo ^c   Neubauer, Bernd ^c   Korff, Christian M ^c   Craiu, Dana ^c   Caglayan, Hande ^c   Helbig, Ingo ^c   De Jonghe, Peter ^c   Thomas, Rhys ^c   Møller, Rikke S ^c   Sisodiya, Sanjay ^c   von Spiczak, Sarah ^c   Weckhuysen, Sarah ^c   Talvik, Tiina ^c  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c NONE

Author keywords

myoclonic astatic epilepsy; Nicolaides Baraitser syndrome; SMARCA2

Indexed keywords

ADENOSINE TRIPHOSPHATASE; BRM PROTEIN; GLUTAMIC ACID; GLYCINE; SMARCA2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; CASE REPORT; CHILD; CLINICAL EXAMINATION; DISEASE ASSOCIATION; EXOME; FEMALE; GENE SEQUENCE; GHANAIAN; HUMAN; MISSENSE MUTATION; MYOCLONIC ASTATIC EPILEPSY; NICOLAIDES BARAITSER SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SMARCA2 GENE; ALLELE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EXON; FACIES; FOOT DEFORMITIES, CONGENITAL; GENETICS; GENOTYPE; HYPOTRICHOSIS; INFANT; INTELLECTUAL DISABILITY; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE;

ALLELES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EXONS; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; GENOTYPE; HUMANS; HYPOTRICHOSIS; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84995693998     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37935     Document Type: Article

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