Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities.
Neurologic findings in 3 siblings with Angelman syndrome (AS) with apparently normal karyotype but DNA deletion of 15q11-q12 deriving from their mother are described. Increased auditory brainstem response (ABR) thresholds were noted in all 3. Interictal EEG findings included periodic 2- to 3-Hz high-voltage slow wave bursts bioccipitally and sporadic slow spike wave complexes mainly bifrontally. EEG findings suggestive of minor epileptic status were apparent in the elder brother and may be a characteristic feature in young AS patients. Seizures suggestive of generalized epilepsy have been reported in 90% of AS patients. AS is considered a good model of symptomatic generalized epilepsy associated with chromosomal DNA deletion of the (GABA)A receptor beta 3-subunit gene.
Sugimoto
T
T
Department of Pediatrics, Kansai Medical University Otokoyama Hospital, Kyoto, Japan.
Yasuhara
A
A
Ohta
T
T
Nishida
N
N
Saitoh
S
S
Hamabe
J
J
Niikawa
N
N
D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D001921:Brain / Q000503:physiopathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D004569:Electroencephalography; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D016057:Evoked Potentials, Auditory, Brain Stem; D005074:Evoked Potentials, Visual; D005190:Family; D005819:Genetic Markers; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D012890:Sleep / Q000502:physiology; D013686:Telemetry
D005819:Genetic Markers