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

@article{Derry2008SevereAD,
  title={Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.},
  author={Christopher Paul Derry and Sarah E. Heron and Fiona L Phillips and Stephen M. Howell and Jacinta MacMahon and Hilary A. Phillips and John S. Duncan and John C. Mulley and Samuel F. Berkovic and Ingrid E. Scheffer},
  journal={Epilepsia},
  year={2008},
  volume={49 12},
  pages={2125-9}
}
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… CONTINUE READING
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