1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-7-02-b 10.15844/pedneurbriefs-7-1-3 Seizure Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Angelman Syndrome and Epilepsy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 01 1993 01 07 2016 7 1 2 3 Copyright: © 1993 The Author(s) 1993 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities

Characteristic epileptic seizures and EEG abnormalities are reported in three siblings with Angelman syndrome from the Kansai University Otokoyoma Hospital, Kyoto; and the Nagasaki University School of Medicine, Japan.

 Characteristic Epileptic Seizures High-Voltage Slow Waves Auditory Brainstem

Characteristic epileptic seizures and EEG abnormalities are reported in three siblings with Angelman syndrome from the Kansai University Otokoyoma Hospital, Kyoto; and the Nagasaki University School of Medicine, Japan. Seizures were generalized, and interictal EEG findings included 2- to 3-Hz high-voltage slow waves bioccipitally and sporadic slow spike wave complexes bifrontally. EEG minor epileptic status occurred in a 38 month old sib and was responsive to clonazepam. The thresholds of wave V in auditory brainstem responses were increased, and the latency of wave I was prolonged in all 3 siblings. Chromosome studies were normal, but DNA deletion of the GABA receptor subunit gene was reported (Saitoh S) in the maternal grandfather, mother, and 3 siblings. [1]

COMMENT. Angelman syndrome is characterized by brachycephaly, microcephaly, mental retardation, jerky puppet-like movements of extremities, inappropriate laughter, and seizures. Seizures are generalized in 90% of patients. Deafness has been reported previously, but the abnormal auditory brain stem responses recorded in this study appear to be unique.

Eight sporadic cases of Angelman syndrome associated with chromo-some 15ql2 deletion are reported from the Central Hospital, and Kobato Gakuen, Aichi Prefectural Colony, Japan [2]. Angelman syndrome is included in the etiology of West, Lennox-Gastaut and other infantile-onset epileptic syndromes.

 Sugimoto T Yasuhara A Ohta T Nishida N Saitoh S Hamabe J Angelman syndrome in three siblings: characteristic epileptic seizures and EEG abnormalities Epilepsia 1992 Nov-Dec 33 6 1078 82 10.1111/j.1528-1157.1992.tb01762.x 1464267 Matsumoto A Kumagai T Miura K Miyazaki S Hayakawa C Yamanaka T Epilepsy in Angelman syndrome associated with chromosome 15q deletion Epilepsia 1992 Nov-Dec 33 6 1083 90 10.1111/j.1528-1157.1992.tb01763.x 1464268