论文信息 - A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

We examined cases of severe myoclonic epilepsy of infancy (SMEI) for exon deletions or duplications within the sodium channel SCN1A gene by multiplex ligation-dependent probe amplification. Two of 13 patients (15%) who fulfilled the strict clinical definition of SMEI but without SCN1A coding or splicing mutations had exonic deletions of SCN1A.

[1] Steven Petrou,et al. SCN1A mutations and epilepsy , 2005, Human mutation.

[2] M. Duno,et al. Multiplex ligation‐dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy , 2004, Clinical genetics.

[3] B. Ceulemans,et al. Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation‐dependent probe amplification (MLPA) , 2004, Human mutation.

[4] I. Scheffer. Severe infantile epilepsies: molecular genetics challenge clinical classification. , 2003, Brain : a journal of neurology.

[5] D. Zwijnenburg,et al. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. , 2002, Nucleic acids research.

[6] O. Dulac,et al. Stiripentol in severe myoclonic epilepsy in infancy: a randomised placebo-controlled syndrome-dedicated trial , 2000, The Lancet.

[7] P. Genton,et al. Lamotrigine and Seizure Aggravation in Severe Myoclonic Epilepsy , 1998, Epilepsia.