Lorita La Selva

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OBJECTIVES SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS All patients fulfilled the criteria for SMEI. The authors analyzed(More)
Severe myoclonic epilepsy of infancy (SMEI) has been long suspected to have a genetic origin. Recently mutations in the gene encoding a voltage-gated alpha-1 sodium channel subunit-SCN1A-have been identified as a common cause of SMEI. Moreover, a mutation in the gene encoding the gamma2 subunit of the GABA(A) receptor-GABRG2-has been described in a GEFS+(More)
We reviewed the results of imaging studies on 111 children and adolescents with partial epilepsy to determine which imaging procedure had the greatest sensitivity and specificity for partial epilepsy in this age range. All cases were classified as idiopathic, lesional, and cryptogenic epilepsy based on the 1989 International League Against Epilepsy(More)
Epileptic seizures, movement disorders and breathing disturbances may be observed in Rett syndrome, and correct diagnosis is mandatory for the management. We evaluated the usefulness of video-polygraphy in the differential diagnosis between epileptic and non-epileptic paroxysmal events in eight patients with Rett syndrome. Based on video analysis, myoclonic(More)
PURPOSE Ring chromosome 20 [r(20)] syndrome is a well-defined chromosomal disorder characterized by epilepsy, mild-to-moderate mental retardation, and lack of recognizable dysmorphic features. Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug(More)
A 7-year-old boy suffering from X-linked hypogammaglobulinemia and progressive myoclonic encephalopathy is reported. The onset of neurological disturbances is at four years of age with ataxic gait and myoclonic jerks. The EEG shows a progressive slowing of background activity, bilateral diffuse and repetitive, pseudoperiodic, high amplitude slow waves,(More)
To the Editor: We read with great interest the article by Dolce et al.1 on Rett syndrome and epilepsy. In particular, the authors outline that epilepsy in Rett syndrome may easily be mistaken and a myriad of behaviors may be inappropriately classified as epileptic events. In fact, epileptic seizures, movement disorders, and breathing disturbances may be(More)
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