Clinical and genetic studies in three families with nocturnal frontal lobe epilepsy / 中华神经科杂志

ABSTRACT

Objective To investigate the clinical,electroencephalogram (EEG) and genetic features of nocturnal frontal lobe epilepsy (NFLE) in the Chinese population.Methods Clinical examination,EEG recording,mutation screenings in transmembrane domains 1-3 of neuronal nicotinic acetylcholine receptor (nAChR) α4 (CHRNA4),β2 (CHRNB2) and α2 (CHRNA2) using PCR amplification and sequencing were carried out on 6 patients and some members in 3 families with NFLE.Results Among 6 patients (5 male) with NFLE,the mean age was (20.5±11.5) years and the mean age at onset was (7.3±5.5) years.Clinical features included seizures of dystonic posturing in 2 patients and seizures of hyperkinetic movements in 4 patients with the maximum frequency of 6 seizures within one night.The ictal and interictal video-EEG (VEEG) of frontal lobes showed epileptic discharges,slow wave activity,normal activity or electrode artifacts.There weren' t abnormity in other clinical examination and neuroimagings.No mutations were identified in the genes screened.Conclusion NFLE is a heterogenetic epilepsy syndrome.