GABRB3, epilepsy, and neurodevelopment

Epilepsia

Volumn 51, Issue SUPPL. 5, 2010, Pages 77-

  Tanaka, Miyabi ^a,b   Delorey, Timothy M ^c   Delgado Escueta, Antonio V ^a,b   Olsen, Richard W ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b VA GREATER LOS ANGELES HEALTHCARE SYSTEM   (United States)

^c MOLECULAR RESEARCH INSTITUTE   (United States)

Author keywords

3 subunit of GABA A receptor; Angelman syndrome; Autism spectrum disorder; Childhood absence epilepsy; Embryonic brain; Rett syndrome; Seizures

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR BETA3;

ARTICLE; ATAXIA; AUTISM; CLINICAL FEATURE; EPIGENETICS; EPILEPSY; HAPPY PUPPET SYNDROME; HUMAN; LEARNING DISORDER; NERVE CELL DIFFERENTIATION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SENSORY DYSFUNCTION;

EID: 78650383494     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2010.02863.x     Document Type: Article

References (4)

1. Delahanty RJ, Kang JQ, Brune CW, Kistner EO, Courchesne E, Cox NJ, Cook EH Jr, Macdonald RL, Sutcliffe JS., (2009) Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism. Mol Psychiatry 24 November [Epub ahead of print].
2. A receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. J Neurosci 18: 8505-8514.
3. DeLorey TM, Sahbaie P, Hashemi E, Li W, Salchi A, Clark JD., (2008) Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. Behav Brain Res 187: 207-220.
4. Tanaka M, Olsen RW, Medina MT, Schwartz E, Alonso ME, Duron RM, Castro-Ortega R, Martinez-Juarez IE, Pascual-Castroviejo I, Machado-Salas J, Silva R, Bailey JN, Bai D, Ochoa A, Jara-Prado A, Pineda G, Macdonald RL, Delgado-Escueta AV,. (2008) Hyperglycosylation of mutated GABRB3 polypeptide in remitting childhood absence epilepsy. Am J Hum Genet 82: 1249-1261.