De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Tavassoli, Teresa ^a,b   Kolevzon, Alexander ^a,b,c   Wang, A T ^a,b   Curchack Lichtin, Jocelyn ^a,b   Halpern, Danielle ^a   Schwartz, Lily ^a   Soffes, Sarah ^a   Bush, Lauren ^a   Grodberg, David ^a,b   Cai, Guiqing ^d   Buxbaum, Joseph D ^a,b,d  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b Departments of Psychiatry and Behavioral Sciences   (United States)

^c Departments of Pediatrics   (United States)

^d Departments of Genetics and Genomic Sciences   (United States)

Author keywords

Autism spectrum disorder; De novo SCN2A splice site mutation; DSM 5

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; SODIUM CHANNEL NAV1.2; ISOPROTEIN; REPRESSOR PROTEIN; SCN2A PROTEIN, HUMAN; TLE1 PROTEIN, HUMAN;

ALLELE; ARTICLE; AUTISM; AUTISM DIAGNOSTIC INTERVIEW REVISED; AUTISM DIAGNOSTIC OBSERVATION SCHEDULE; BRAIN DEVELOPMENT; CAREGIVER SENSORY PROFILE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; COMPULSION; DE NOVO SPLICE SITE MUTATION; DNA SEQUENCE; DSM-5; ECHOLALIA; EXOME; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LEITER INTERNATIONAL PERFORMANCE SCALE; LYMPHOBLASTOID CELL LINE; MALE; MISSENSE MUTATION; NAMED INVENTORIES, QUESTIONNAIRES AND RATING SCALES; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKILL; STOP CODON; VINELAND ADAPTIVE BEHAVIOR SCALE II; AMINO ACID SEQUENCE; GENETIC ASSOCIATION; GENETICS; METABOLISM; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; PSYCHOLOGICAL ASPECT; RNA SPLICING;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NAV1.2 VOLTAGE-GATED SODIUM CHANNEL; PROTEIN ISOFORMS; REPRESSOR PROTEINS; RNA SPLICE SITES;

EID: 84898775213     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-35     Document Type: Article

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