Lorita La Selva

Publications (2)6.25 Total impact

• Article: Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three children.

  Aglaia Vignoli, Mario Paola Canevini, Francesca Darra, Lorita La Selva, Elena Fiorini, Ada Piazzini, Francesca Lazzarotto, Claudio Zucca, Bernardo Dalla Bernardina
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  ABSTRACT: 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 resistant. We describe three children with [r(20)] syndrome in whom the onset of epilepsy (age at onset range: 4 years and 6 months to 9 years and 4 months) determined a kind of epileptic status (age at onset range: 6 years and 10 months to 9 years and 8 months) with dramatic neuropsychological deterioration. This epileptic status lasted for several months because of refractoriness to most antiepileptic drugs (AEDs), but it was treated successfully with a combination of valproate and lamotrigine in two children. As soon as seizures stopped, the children showed prompt recovery with partial restoration of the neuropsychological impairment. This clinical picture can be described as abrupt epileptic encephalopathy.
  Epilepsia 08/2009; 50(11):2420-7. · 3.96 Impact Factor
• Article: No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy.

  Francesca Madia, Elena Gennaro, Massimiliano Cecconi, Daniela Buti, Giuseppe Capovilla, Bernardo Dalla Bernardina, Maurizio Elia, Annarita Ferrari, Elena Fontana, Roberto Gaggero, [......], Lorita La Selva, Maria Luisa Lispi, Margherita Santucci, Francesca Vanadia, Pierangelo Veggiotti, Piernanda Vigliano, Maurizio Viri, Franca Dagna Bricarelli, Amedeo Bianchi, Federico Zara
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  ABSTRACT: 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+ family with a member affected by SMEI. In order to further investigate the role of GABRG2 in the pathogenesis of SMEI, we have screened for mutations 53 SMEI patients who resulted negative for SCN1A mutations. Mutational screening of GABRG2 genes was performed by denaturing high performance liquid chromatography (DHPLC) and direct sequencing of DNA fragments showing a variant chromatogram. Twenty-nine variant chromatograms were identified corresponding to seven different nucleotide variants. None of them leads to an amino acid change or obvious protein dysfunction. No difference in allele frequency was observed for the SMEI patients compared to a control population indicating that these variants are not involved in SMEI. Our study demonstrates that GABRG2 is not a commonly involved in the etiology of SMEI and suggests that other and yet unidentified genes are involved in the syndrome
  Epilepsy Research 04/2003; 53(3):196-200. · 2.29 Impact Factor