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Type: Journal article
Title: Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability
Author: Derry, C.
Heron, S.
Phillips, F.
Howell, S.
MacMahon, J.
Phillips, H.
Duncan, J.
Mulley, J.
Berkovic, S.
Scheffer, I.
Citation: Epilepsia, 2008; 49(12):2125-2129
Publisher: Blackwell Publishing Inc
Issue Date: 2008
ISSN: 0013-9580
Statement of
Christopher P. Derry, Sarah E. Heron, Fiona Phillips, Stephen Howell, Jacinta MacMahon, Hilary A. Phillips, John S. Duncan, John C. Mulley, Samuel F. Berkovic, and Ingrid E. Scheffer
Abstract: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a relatively benign epilepsy syndrome with few comorbidities. Here we describe two families with unusually severe ADNFLE, with associated psychiatric, behavioral, and cognitive features. Detailed clinical data on 17 affected individuals were obtained, and genotyping of microsatellite markers, linkage analysis, and sequencing of candidate genes was performed. The severe ADNFLE phenotype in these families was often refractory to treatment, with status epilepticus occurring in 24% of subjects. Psychiatric or behavioral disorders occurred in 53%, with intellectual disability in 24%, and developmental regression in two individuals. No mutations were identified in alpha4, alpha2, or beta2 nAChR subunits. In one family there was evidence of linkage to a region of 15q24 without nAChR subunit genes. In conclusion, severe ADNFLE has significant medical, psychiatric, and intellectual morbidity. The molecular basis of severe ADNFLE is unknown but may involve non-nAChR-related mechanisms.
Keywords: ADNFLE; Intellectual disability; Developmental regression; Psychiatric; Behavioral disorder.
RMID: 0020084215
DOI: 10.1111/j.1528-1167.2008.01652.x
Appears in Collections:Paediatrics publications

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