A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation

A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation

“…There is only one additional report of a co-occurrence of ADNFLE and mental retardation within the same pedigree, but no mutation was found in this German family. 26 The clinical features, such as drug resistance and mental retardation, shared by the Japanese family and our Korean family could indicate that the CHRNA4 Ser252Leu mutation causes an ADNFLE phenotype that shows characteristic differences compared with the clinical characteristics described for Ser248Phe families. The genotypic similarity between our family and the previously described Japanese family 5 raises the possibility of common ancestry; this was denied by our family and the Japanese kindred (S. Hirose, MD, PhD, written communication, June 2003).…”

A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy

“…Such a manifestation was reported in only one family with ADNFLE. 26 However, the small sample size in this study precludes any definite conclusion with regard to the relationship between symptomatology and type of mutation. Furthermore, judging from the role of Ser 252 in the mechanism of gating the channel, Ser252Leu may lead to electrophysiologic characteristics similar to those of Ser248Phe because both Ser 252 and Ser 248 are believed to play the same role, together with Thr 244 , in gating the channel.…”

The Sleep Manifestations of Frontal Lobe Epilepsy

“…Although about 85% of cases begin before age 20 [5], seizure onset has been reported from 1 to 52 years of age [5,36]. Affected individuals are usually said to be of normal intellect and have a normal neurologic examination [5,36], although several families with mental retardation in association with ADNFLE have now been described [35,46,47], and more recently detailed neuropsychological studies have found subtle deficits in frontal lobe functions in affected individuals [48,49]. The clinical and electrographic features of ADNFLE are indistinguishable from sporadic NFLE [5,36], and MRI is typically normal [5,36].…”