Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

American Journal of Medical Genetics, Part A

Volumn 167, Issue 9, 2015, Pages 2017-2025

  Olson, Heather E ^a,b   Tambunan, Dimira ^a   Lacoursiere, Christopher ^a   Goldenberg, Marti ^a   Pinsky, Rebecca ^a   Martin, Emilie ^a   Ho, Eugenia ^a   Khwaja, Omar ^a   Kaufmann, Walter E ^a,b   Poduri, Annapurna ^a,b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

CDKL5; Deletions; FOXG1; Genetic; MECP2; Mutations; Rett syndrome; SCN8A; STXBP1; Whole exome sequencing

Indexed keywords

METHYL CPG BINDING PROTEIN 2; SODIUM CHANNEL NAV1.6; FORKHEAD TRANSCRIPTION FACTOR; FOXG1 PROTEIN, HUMAN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; IQSEC2 PROTEIN, HUMAN; MUNC18 PROTEIN; NERVE PROTEIN; SCN8A PROTEIN, HUMAN; STXBP1 PROTEIN, HUMAN;

ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; DIAGNOSTIC PROCEDURE; EPILEPSY; EXOME; FOXG1 GENE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; INFANT; INTELLECTUAL IMPAIRMENT; IQSEC2 GENE; MECP2 GENE; PHENOTYPE; PRIORITY JOURNAL; RETT SYNDROME; SCN8A GENE; SEQUENCE ANALYSIS; STXBP1 GENE; ADOLESCENT; ADULT; FRAMESHIFT MUTATION; GENETICS; PRESCHOOL CHILD; PROCEDURES; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EPILEPSY; EXOME; FORKHEAD TRANSCRIPTION FACTORS; FRAMESHIFT MUTATION; GENETIC TESTING; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; INTELLECTUAL DISABILITY; METHYL-CPG-BINDING PROTEIN 2; MUNC18 PROTEINS; NAV1.6 VOLTAGE-GATED SODIUM CHANNEL; NERVE TISSUE PROTEINS; PHENOTYPE; RETT SYNDROME; YOUNG ADULT;

EID: 84939466790     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37132     Document Type: Article

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