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

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.

MRI Findings in Lateral Medullary Syndrome According to the Patterns of Sensory Deficits

The lateral medullary syndrome, I. E. Wallenberg syndrome, presents with several forms of sensory deficits. However, the correlation between the sensory deficits and the MRI findings of the medulla has been rarely attempted. We studied 16 patients with lateral medullary infarction who showed appropriate MRI lesions and correlated their sensory findings with the MRI results. In order to examine the extent of lesion of medulla in the MRI, we divided the medulla into three parts, namely upper, middle, and lower parts. The patients exhibited six types of sensory manifestation. In brain MRI, five patients with uncrossed sensory deficit; three patients with contralateral sensory deficit involving only body; and one patient with contralateral sensory level on trunk showed a diagonal band, lateral, or combined lesion in the medulla. Four patients with crossed sensory deficit and one patient with ipsilateral sensory deficit involving only face showed a large, laterodorsal lesion in the medulla. Two patients without sensory deficit exhibited a dorsal lesion in the medulla. In conclusion, lateral medullary syndrome usually has a characteristic lesion in the MRI according to the sensory deficits.