Angelman Syndrome in Three Siblings: Characteristic Epileptic Seizures and EEG Abnormalities
Article first published online: 4 AUG 2005
Volume 33, Issue 6, pages 1078–1082, November 1992
How to Cite
Sugimoto, T., Yasuhara, A., Ohta, T., Nishida, N., Saitoh, S., Hamabe, J.-i. and Niikawa, N. (1992), Angelman Syndrome in Three Siblings: Characteristic Epileptic Seizures and EEG Abnormalities. Epilepsia, 33: 1078–1082. doi: 10.1111/j.1528-1157.1992.tb01762.x
- Issue published online: 4 AUG 2005
- Article first published online: 4 AUG 2005
- Received October 1991; revision accepted April 1992.
- Angelman syndrome;
- Generalized epilepsy;
- DNA damage;
- Brainstem auditory evoked potentials
Summary: 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), receptor β3-subunit gene.