Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis

Neuropediatrics

Volumn 34, Issue 4, 2003, Pages 169-176

  Dan, B ^a   Boyd, S G ^b  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Angelman syndrome; Chromosome 15; EEG; Epilepsy; GABAA; UBE3A

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; RECEPTOR SUBUNIT;

CLINICAL FEATURE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; EYELID CLOSURE; FRONTAL CORTEX; GABAERGIC TRANSMISSION; GABRB3 GENE; GENE; GENE DELETION; GENE EXPRESSION; GENE INACTIVATION; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; MOUSE; NEUROPHYSIOLOGY; NONHUMAN; OCCIPITAL CORTEX; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEIZURE; SPIKE; SYNAPTIC TRANSMISSION; THALAMOCORTICAL TRACT; UBE3A GENE;

ANGELMAN SYNDROME; ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; LIGASES; MICE; NERVOUS SYSTEM; RECEPTORS, GABA-A; UBIQUITIN-PROTEIN LIGASES;

EID: 0141514729     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2003-42213     Document Type: Review

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