Purpose: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of febrile seizures (FS) or epilepsy. We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder.
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations / Mancardi MM; Striano P; Gennaro E; Madia F; Paravidino R; Scapolan S; Dalla Bernardina B; Bertini E; Bianchi A; Capovilla G; Darra F; Elia M; Freri E; Gobbi G; Granata T; Guerrini R; Pantaleoni C; Parmeggiani A; Romeo A; Santucci M; Vecchi M; Veggiotti P; Vigevano F; Pistorio A; Gaggero R; Zara F.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 47 (10):(2006), pp. 1629-1635. [10.1111/j.1528-1167.2006.00641.x]
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations.
GUERRINI, RENZO;
2006
Abstract
Purpose: The role of the familial background in severe myoclonic epilepsy of infancy (SMEI) has been traditionally emphasized in literature, with 25-70% of the patients having a family history of febrile seizures (FS) or epilepsy. We explored the genetic background of SMEI patients carrying SCN1A mutations to further shed light on the genetics of this disorder.
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