Angelman syndrome in three siblings: genetic model of epilepsy associated with chromosomal DNA deletion of the GABAA receptor.
Sugimoto
T
T
Department of Pediatrics, Kansai Medical University Otokoyama Hospital, Kyoto, Japan.
Araki
A
A
Yasuhara
A
A
Woo
M
M
Nishida
N
N
Sasaki
T
T
D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics*; D005071:Evoked Potentials / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008957:Models, Genetic; D011963:Receptors, GABA-A / Q000235:genetics*
D011963:Receptors, GABA-A