Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy
Amanda G Wood, Michael M Saling, Marco Fedi, Samuel F Berkovic, Ingrid E Scheffer, Christopher Benjamin, David C Reutens
EPILEPSY & BEHAVIOR | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2010
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a nonlesional condition associated with mutation of the gene coding for the alpha4 nicotinic acetylcholine receptor (nAChR). The nAChR modulates aspects of memory and attention. We examined the neuropsychological phenotype of ADNFLE, with a particular emphasis on understanding the impact on frontal lobe functions. We used standard clinical tests as well as focused measures of frontal lobe function in a well-defined group of patients with ADNFLE. Their performance was compared with that of a group of age-, sex-, and education-matched control participants. Patients with ADNFLE showed impairments on tasks requiring cognitive flexibi..View full abstract
The contributions of family members, control participants, and Ms. Danya Vears are gratefully acknowledged. This work was supported by National Health and Medical Research Council of Australia program funding to S.F.B., I.E.S., and D.C.R. and postdoctoral training fellowship funding (ID 251755) to A.G.W.