Pediatric Neurology
Volume 34, Issue 2 , Pages 116-120 , February 2006

Recurrent De Novo Mutations of SCN1A in Severe Myoclonic Epilepsy of Infancy

  • Jennifer A. Kearney, PhD

      Affiliations

    • Department of Human Genetics, University of Michigan, Ann Arbor, Michigan
    • ,
  • Anna K. Wiste, BS

      Affiliations

    • Department of Human Genetics, Emory University, Atlanta, Georgia
    • ,
  • Ulrich Stephani, MD

      Affiliations

    • Neuropediatric Department, University Hospital Schlewig-Holstein, Campus Kiel, Kiel, Germany
    • ,
  • Michelle M. Trudeau, MS

      Affiliations

    • Department of Human Genetics, University of Michigan, Ann Arbor, Michigan
    • ,
  • Anne Siegel, BS

      Affiliations

    • Department of Human Genetics, Emory University, Atlanta, Georgia
    • ,
  • Rajesh RamachandranNair, MD

      Affiliations

    • Department of Pediatrics, The Hospital for Sick Children, Toronto, Canada
    • ,
  • Roy D. Elterman, MD

      Affiliations

    • Department of Pediatrics, University of Texas Southwestern Medical School at Dallas, Dallas, Texas
    • ,
  • Hiltrud Muhle, MD

      Affiliations

    • Neuropediatric Department, University Hospital Schlewig-Holstein, Campus Kiel, Kiel, Germany
    • ,
  • Juliane Reinsdorf, MD

      Affiliations

    • Neuropediatric Department, University Hospital Schlewig-Holstein, Campus Kiel, Kiel, Germany
    • ,
  • W. Donald Shields, MD

      Affiliations

    • Department of Pediatrics, University of California at Los Angeles
    • ,
  • Miriam H. Meisler, PhD

      Affiliations

    • Department of Human Genetics, University of Michigan, Ann Arbor, Michigan
    • ,
  • Andrew Escayg, PhD

      Affiliations

    • Department of Human Genetics, Emory University, Atlanta, Georgia
    • Corresponding Author InformationCommunications should be addressed to: Dr. Escayg; Department of Human Genetics; Emory University; 615 Michael Street; Whitehead Building, Suite 301; Atlanta, GA 30322.

Received 17 February 2005 ,Accepted 21 July 2005.

References 

  1. Escayg A , MacDonald B , Meisler M , et al.   Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2 . Nat Genet . 2000;24:343–345
  2. Meisler MH , Kearney JA . Sodium channel mutations in epilepsy and other neurological disorders . J Clin Invest . 2005;115:2010–2017
  3. Fukuma G , Oguni H , Shirasaka Y , et al.   Mutations of neuronal voltage-gated Na+ channel alpha1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB) . Epilepsia . 2004;45:140–148
  4. Wallace RH , Hodgson BL , Grinton BE , et al.   Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms . Neurology . 2003;61:765–769
  5. Ceulemans BP , Claes LR , Lagae LG . Clinical correlations of mutations in the SCN1A gene (From febrile seizures to severe myoclonic epilepsy in infancy) . Pediatr Neurol . 2004;30:236–243
  6. Lossin C , Rhodes TH , Desai RR , et al.   Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A . J Neurosci . 2003;23:11289–11295
  7. Spampanato J , Kearney JA , de Haan G , et al.   A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction . J Neurosci . 2004;24:10022–10034
  8. Commission on Classification and Terminology of the ILAE . Proposal for revised classification of epilepsies and epileptic syndromes . Epilepsia . 1989;30: 389-99
  9. Oguni H , Hayashi K , Awaya Y , Fukuyama Y , Osawa M . Severe myoclonic epilepsy in infants (A review based on the Tokyo Women’s Medical University series of 84 cases) . Brain Devel . 2001;23:736–748
  10. Fujiwara T , Sugawara T , Mazaki-Miyazaki E , et al.   Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures . Brain . 2003;126:531–546
  11. Sugawara T , Tsurubuchi Y , Fujiwara T , et al.   Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents . Epilepsy Res . 2003;54:201–207
  12. Cormier JW , Rivolta I , Tateyama M , Yang AS , Kass RS . Secondary structure of the human cardiac Na+ channel C terminus (Evidence for a role of helical structures in modulation of channel inactivation) . J Biol Chem . 2002;277:9233–9241
  13. Rhodes TH , Lossin C , Vanoye CG , Wang DW , George AL . Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy . Proc Natl Acad Sci USA . 2004;101:11147–11152
  14. Yu FH , Mantegazza M , Westenbroek RE , et al.   In: Deletion of the Nav1.1 channel: A mouse model for severe myoclonic epilepsy of infancy. Program No. 479.5. 2004 Abstract Viewer/Itinerary Planner. . Washington, DC: Society for Neuroscience; 2004; (online)

 The first two authors contributed equally to this work.

PII: S0887-8994(05)00412-1

doi: 10.1016/j.pediatrneurol.2005.07.009

Pediatric Neurology
Volume 34, Issue 2 , Pages 116-120 , February 2006

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