Journal article

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability

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

EPILEPSIA | WILEY | Published : 2008


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..

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Funding Acknowledgements

We thank the families for their participation in this work. We thank Dr. Lloyd Shield for referring the Australian family. This work was supported by grants from the NHMRC and Brockoff foundation (Australia) and the National Society for Epilepsy (U.K.).Conflict of interest: We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines. The authors have reported no conflicts of interest.