J Korean Neurol Assoc.  2002 Nov;20(6):600-611.

Clinical, Electrophysiological, and Genetic Analysis in a Family with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

• Sohn SI
• Cho YW
• Yi SD
• Kim DK
• Jung DK
• Lee H
• Lim JG
• Lee JH

Abstract

BACKGROUND: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a distinct epilepsy syndrome and a genetically heterogeneous disorder linked to chromosomes 20q13.2, 15q24, and 1p21. Missense and insertion mutations in neuronal nicotine acetylcholine receptor 4 (CHRNA4) and 2 (CHRNB2) genes have been found in families with ADNFLE.
METHODS
Clinical, EEG-Video monitoring, and neuropsychologic study in a family with ADNFLE were tested. For detect of mutation gene, polymerase chain reaction for CHRNA4 gene and CHRNB2 gene, single strand conformational polymorphism (SSCP) analysis and DNA sequencing were done.
RESULTS
Among 15 living family members in three generations, nine had seizures. EEG-Video monitoring showed ictal epileptiform discharges genetically or regionally in frontal, frontocentral, frontotemporal, or temporal areas and less frequently no epileptiform discharges or non-specific generalized slowing. Two affected individuals demonstrated interictal temporal spikes, whereas the others were normal. Neuropsychological study showed mental retardation and decreased frontal executive function in five affected individuals. A cytosine to thymine exchange (755C>T; S252L) in exon 5 of the CHRNA4 gene was found on all affected individuals except in an individual who wasn 't tested, but this change was absent in those without epilepsy.
CONCLUSIONS
This is the first study of genetically confirmed ADNFLE in a Korean family, who had mental retardation and various EEG abnormalities, ictally and interictally.

Keyword

Epilepsy; Frontal lobe; Autosomal dominant; ADNFLE; CHRNA4 gene; Mental retardation

MeSH Terms

Acetylcholine
Cytosine
Electroencephalography
Epilepsy
Epilepsy, Frontal Lobe*
Executive Function
Exons
Family Characteristics
Frontal Lobe*
Humans
Intellectual Disability
Mutagenesis, Insertional
Neurons
Nicotine
Polymerase Chain Reaction
Seizures
Sequence Analysis, DNA
Thymine
Acetylcholine
Cytosine
Nicotine
Thymine