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EnglishWe report on the use of the voltage-gated calcium channel blocker (Vg-CCB), verapamil, as an add-on anticonvulsant medication in two girls, 4 and 14 years of age, who were affected by severe myoclonic epilepsy in infancy (SMEI) or Dravet syndrome, a channelopathy caused by abnormalities in the voltage-gated sodium channel neuronal type alpha 1 subunit (SCN1A) gene at 2q24. Both girls had pharmacoresistant epilepsy and developmental delay. Mutation analysis for the SCN1A gene revealed a missense mutation in exon 2 in the 4-year-old girt. Verapamil was co-administered in both children with a prompt response in controlling status epilepticus, myoclonic jerks, and partial and generalized seizures. The therapeutic effect lasted 13 months in the 14-year-old girt, while it is still present after a 20-month follow-up period in the 4-year-old girt who, in addition, has experienced improvement in motor and language development. The verapamil vVg-CCB, which crosses the blood-brain barrier (BBB): (a) inhibits the P-glycoprotein, an active efflux transporter protein expressed in normal tissue, including the brain, which is believed to contribute to the in situ phenomenon of multidrug resistance; and (b) may regulate membrane depolarization induced by abnormal sodium channels functions by modulating the abnormal Ca(++) influxes into neurons with subsequent cell resting. This is the first report on long-lasting verapamil therapy in SMEI The functional consequences of such in vivo modulating effects on Ca(++) channels could contribute to rational targeting for future molecular therapeutic approaches in pharmacoresistant epileptic channelopathies. (C) 2009 Elsevier B.V. All rights reserved.
Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy / Iannetti, Paola; Parisi, Pasquale; Spalice, Alberto; Martino, Ruggieri; Federico, Zara. - In: EPILEPSY RESEARCH. - ISSN 0920-1211. - STAMPA. - 85:1(2009), pp. 89-95. [10.1016/j.eplepsyres.2009.02.014]
| Titolo: | Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy | |
| Autori: | ||
| Data di pubblicazione: | 2009 | |
| Rivista: | ||
| Citazione: | Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy / Iannetti, Paola; Parisi, Pasquale; Spalice, Alberto; Martino, Ruggieri; Federico, Zara. - In: EPILEPSY RESEARCH. - ISSN 0920-1211. - STAMPA. - 85:1(2009), pp. 89-95. [10.1016/j.eplepsyres.2009.02.014] | |
| Handle: | http://hdl.handle.net/11573/143961 | |
| Appartiene alla tipologia: | 01i Case report |
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