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From Généthon III (Dr. Nabbout), Evry, France; Laboratory of Human Genetics (Drs. Nabbout, Dagna Bricarelli, and Zara, and E. Gennaro) and Unit of Child Neuropsychiatry (Dr. Matricardi), E.O. Ospedali Galliera, Genova; Neuropediatrics Department (Drs. Nabbout, Dulac, and Chiron, and F. Madia), Hôpital Saint Vincent de Paul, Paris; Department of Child Neuropsychiatry (Drs. Dalla Bernardina and Fontana), University of Verona, Italy; INSERM U29 and Université René Descartes (Dr. Dulac), Paris, France; Unit of Molecular Medicine (Dr. Bertini) and Division of Neurology (M.L. Lispi), Ospedale Pediatrico "Bambino Gesù," Rome; Epilepsy Center (Dr. Capovilla), Department of Child Neuropsychiatry, Hospital "C. Poma," Mantova, Italy; Unit of Child Neuropsychiatry IRCCS "Medea" (Dr. Cristofori), Trieste, Italy; Department of Neurology (Dr. Elia), Oasi Institute for Research on Mental Retardation and Brain Aging, Troina (Enna), Italy; Department of Child Neuropsychiatry (Dr. Gaggero), Istituto "G. Gaslini," Genova, Italy; Division of Neuropediatrics (Dr. Granata), Istituto Nazionale Neurologico "C. Besta," Milan; IRCCS Fondazione Stella Maris-DUNPI (Dr. Guerrini), Pisa, Italy; Institute of Child Health (Dr. Guerrini), UCL, London, UK; Unit of Child Neuropsychiatry (Dr. Loi), Ospedale "Brotzu," Cagliari, Italy; Unit of Neurology (Dr. La Selva), Ospedale Pediatrico Giovanni XXIII, Bari, Italy; Center for Child Epilepsy (A. Romeo), Azienda Ospedaliera "Fatebenefratelli e Oftalmico," Milan, Italy; Unit of Child Neuropsychiatry (Dr. Tzolas), Ospedale Maggiore "C.A. Pizzardi," Bologna, Italy; Division of Child Neuropsychiatry (Dr. Valseriati), "Spedali Civili," Brescia, Italy; Unit of Child Neuropsychiatry (Dr. Veggiotti), Istituto Mondino, Pavia, Italy; The Italian League against Epilepsy (Dr. Vigevano), Rome, Italy; Department of Neuropediatrics (Dr. Vallée), Hôpital Roger Sallengro, CHRU, Lille, France; and Division of Neurology (Dr. Bianchi), Ospedale "S. Donato," Arezzo, Italy.
Address correspondence and reprint requests to Dr. Rima Nabbout, Hôpital Saint Vincent de Paul, Paris, France; e-mail: rimanabbout{at}yahoo.com
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 all patients for SCN1A mutations using denaturing high performance liquid chromatography. If a patient’s chromatogram was abnormal, the authors sequenced the gene in the patient and both parents.
Results: SCN1A mutations were identified in 33 patients (35%). Most mutations were de novo, but were inherited in three patients. Parents carrying the inherited mutations had either no symptoms or a milder form of epilepsy. A greater frequency of unilateral motor seizures was the only clinical difference between patients with SCN1A mutations and those without. Truncating mutations were more frequently associated with such seizures than were missense mutations. The percentage of cases with family history of epilepsy was significantly higher in patients with SCN1A mutations.
Conclusions: Unilateral motor seizures may be a specific clinical characteristic of SMEI caused by SCN1A mutations. Ten percent of SCN1A mutations are inherited from an asymptomatic or mildly affected parent, suggesting that SMEI is genetically heterogeneous. The increased frequency of familial epilepsy indicates that other genetic factors may contribute to this disorder.
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