Document Detail

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.
MedLine Citation:
PMID:  18479385     Owner:  NLM     Status:  MEDLINE    
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.
Christopher P Derry; Sarah E Heron; Fiona Phillips; Stephen Howell; Jacinta MacMahon; Hilary A Phillips; John S Duncan; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-05-09
Journal Detail:
Title:  Epilepsia     Volume:  49     ISSN:  1528-1167     ISO Abbreviation:  Epilepsia     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-12-03     Completed Date:  2009-04-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  2983306R     Medline TA:  Epilepsia     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2125-9     Citation Subset:  IM    
Department of Medicine (Neurology), Epilepsy Research Centre, University of Melbourne, Victoria, Australia.
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MeSH Terms
Child, Preschool
Cognition Disorders / complications*,  genetics
Epilepsy, Frontal Lobe / complications*,  genetics
Family Health
Genes, Dominant*
Genetic Heterogeneity
Genetic Predisposition to Disease
Mental Disorders / complications*
Middle Aged
Protein Subunits / genetics
Receptors, Nicotinic / genetics
Sleep Disorders / complications*,  genetics
Young Adult
Reg. No./Substance:
0/Protein Subunits; 0/Receptors, Nicotinic

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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