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Amets Sáenz, BSc; Juan Galán, MD; Christophe Caloustian, BSc; Frederic Lorenzo, PhD; Celedonio Márquez, MD; Nuria Rodríguez, MD; Maria Dolores Jiménez, MD; Juan Jose Poza, MD, PhD; Ana Maria Cobo, PhD; Djamel Grid, MD; Jean-François Prud'homme, MD; Adolfo López de Munain, MD, PhD

Arch Neurol. 1999;56:1004-1009.

Background  A large family with autosomal dominant nocturnal frontal lobe epilepsy from the south of Spain was studied. The clinical appearance of the disease in this family, which included 28 members, of whom 11 were affected and 2 were obligate carriers, was identical to that previously described in an Australian family and a Norwegian family, in which mutations in exon 5 of the CHRNA4 gene were found.

Methods  Following DNA extraction, the family was genotyped with 4 fluorescent markers flanking the locus to the CHRNA4 gene on chromosome 20q13.3, and lod score computations were performed. The exon 5 of the CHRNA4 gene was amplified between nucleotides 535 and 825 and polymerase chain reaction products were purified and sequenced directly.

Results  The same missense mutation as that found in the Australian family, CT, which causes the replacement of a serine with phenylalanine in amino acid 252 in exon 5, was detected. This mutation segregated with the disorder in all 11 affected members, in the 2 obligate carriers, and in 1 asymptomatic sibling, and was not found in 1 spouse and 1 daughter. Neither of the 2 polymorphisms associated with this mutation in the Australian family were found, excluding a common ancestral haplotype for the 2 families.

Conclusions  These data confirm the clinical homogeneity in the phenotypic expression of autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in the CHRNA4 gene, and the pathogenic role of the Ser252Phe mutation in this disorder.

From the Experimental Unit (Drs Sáenz and Cobo) and Department of Neurology (Drs Poza and López de Munain), Hospital Nuestra Señora de Aránzazu, San Sebastián, Basque Country, Spain; Department of Neurology, Hospital Valme, Seville, Andalucía, Spain (Drs Galán, Márquez, Rodríguez, and Jiménez); and Généthon II, Evry, France (Drs Caloustian, Lorenzo, Grid, and Prud'homme).

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