Autosomal Dominant Nocturnal Partial Epilepsy (ADNPE) in a Korean Kindred.
Abstract number :
1.058
Submission category :
Year :
2001
Submission ID :
1207
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
Y.W. Cho, MD, Neurology, Keimyung University, Dongsan Medical Center, Taegu, GyeongSangBuk-Do, Republic of Korea; G.K. Motamedi, MD, Neurology, Johns Hopkins Hospital, Baltimore, MD; R.P. Lesser, MD, Neurology, Johns Hopkins Hospital, Baltimore, MD; S. So
RATIONALE: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is the first idiopathic human epilepsy syndrome for which a genetic defect was discovered: a mutation in the neuronal acetylcholine receptor (nAChR) [alpha]4-subunit gene (CHRNA4) on chromosome 20q13.2-q13.3. Two other regions on chromosome 15q24 (containing the CHRNA3/A5/B4 gene cluster, coding for the [alpha]3, [alpha]5 and [beta]4 subunits), and chromosome 1, containing the gene encoding the ss2 subunit of the [beta]2 nicotinic receptor (CHRNB2) have also been linked to ADNFLE.
METHODS: The authors performed a comprehensive clinical, electroencephalographic, and imaging study in a large, three-generation family from South Korea, including nine affected individuals in three generations. This family had Autosomal Dominant Nocturnal Partial Epilepsy (ADNPE). Currently the affected members of the family are being tested for any possible mutations i.e., on CHRNA4 and CHRNB2.
RESULTS: The mean age at onset of seizures was 11 years and all affected individuals manifested nocturnal partial seizures. Clinical seizure phenomena included staring, confusion, shouting, hand waving, perioral movements, unintelligible speech, tremulous or clonic activity, and blinking. As with ADNFLE, only some patients had interictal epileptiform abnormalities in EEG, of temporal or frontal lobe origin. Neurologic and intellectual examinations as well as brain MRI were normal except for mild hydrocephalus in one case. Almost all of the patients were responsive to carbamazepine.
CONCLUSIONS: ADNFLE is heterogeneous both genetically and phenotypically. However, this family might be better classified as ADNPE, since the seizures apparently do not always originate in the frontal lobe. This would be the first report of ADNPE in Korea.