TY - JOUR
T1 - Mutational analysis of nicotinic acetylcholine receptor β2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy
AU - Duga, Stefano
AU - Asselta, Rosanna
AU - Bonati, Maria Teresa
AU - Malcovati, Massimo
AU - Dalprà, Leda
AU - Oldani, Alessandro
AU - Zucconi, Marco
AU - Ferini-Strambi, Luigi
AU - Tenchini, Maria Luisa
PY - 2002
Y1 - 2002
N2 - Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. In all patients, the involvement of the two additional loci reported as being associated with ADNFLE (CHRNA4 gene and chromosome 15q24 region) had been previously excluded. Mutational screening was performed by sequencing a polymerase chain reaction-amplified CHRNB2 DNA fragment, spanning the whole exon 5, which contains the V287L and V287M mutations and codes for ∼65% of the mature protein. In none of the patients were mutations in the analyzed region of CHRNB2 found. These data, obtained in the largest ADNFLE cohort so far analyzed, demonstrate the rarity of the identified CHRNB2 mutations in ADNFLE patients.
AB - Twenty-four autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) probands were analyzed for the presence of V287L and V287M mutations in the CHRNB2 gene, which have been recently associated with the disease. In all patients, the involvement of the two additional loci reported as being associated with ADNFLE (CHRNA4 gene and chromosome 15q24 region) had been previously excluded. Mutational screening was performed by sequencing a polymerase chain reaction-amplified CHRNB2 DNA fragment, spanning the whole exon 5, which contains the V287L and V287M mutations and codes for ∼65% of the mature protein. In none of the patients were mutations in the analyzed region of CHRNB2 found. These data, obtained in the largest ADNFLE cohort so far analyzed, demonstrate the rarity of the identified CHRNB2 mutations in ADNFLE patients.
KW - ADNFLE
KW - Mutational screening
KW - Sequencing
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U2 - 10.1046/j.1528-1157.2002.39001.x
DO - 10.1046/j.1528-1157.2002.39001.x
M3 - Article
C2 - 11952766
AN - SCOPUS:0036220523
VL - 43
SP - 362
EP - 364
JO - Epilepsia
JF - Epilepsia
SN - 0013-9580
IS - 4
ER -