Download PDF
Neuropediatrics 2014; 45(04): 261-264
DOI: 10.1055/s-0034-1372302
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

Annette Hackenberg
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
,
Alessandra Baumer
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
,
Heinrich Sticht
3   Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany
,
Bernhard Schmitt
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
4   CRC Clinical Research Center University, Children's Hospital Zurich, Zurich, Switzerland
,
Judith Kroell-Seger
5   Swiss Epilepsy Centre, Zurich, Switzerland
,
David Wille
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
,
Pascal Joset
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
,
Sorina Papuc
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
,
Anita Rauch
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
4   CRC Clinical Research Center University, Children's Hospital Zurich, Zurich, Switzerland
6   radiz—Rare Disease Initiative Zürich. Clinical Research Priority Program for Rare Diseases University of Zurich, Zurich, Switzerland
,
Barbara Plecko
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
4   CRC Clinical Research Center University, Children's Hospital Zurich, Zurich, Switzerland
6   radiz—Rare Disease Initiative Zürich. Clinical Research Priority Program for Rare Diseases University of Zurich, Zurich, Switzerland
› Author Affiliations
Further Information

Publication History

20 October 2013

16 January 2014

Publication Date:
07 April 2014 (online)

    Permissions and Reprints

Abstract

Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Whole exome sequencing did not reveal any other disease causing mutation. Our patient contributes to the expanding phenotypic spectrum of SCN2A-related disorders and underlines the importance of genetic workup in epileptic encephalopathies.

Keywords

intellectual disability - choreoathetosis - voltage-gated sodium channel - seizures
 

  • References

  • 1 Heron SE, Crossland KM, Andermann E , et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 2002; 360 (9336) 851-852
    CrossrefPubMedGoogle Scholar
  • 2 Nakamura K, Kato M, Osaka H , et al. Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. Neurology 2013; 81 (11) 992-998
    CrossrefPubMedGoogle Scholar
  • 3 Shi X, Yasumoto S, Kurahashi H , et al. Clinical spectrum of SCN2A mutations. Brain Dev 2012; 34 (7) 541-545
    CrossrefPubMedGoogle Scholar
  • 4 Rauch A, Wieczorek D, Graf E , et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 2012; 380 (9854) 1674-1682
    CrossrefPubMedGoogle Scholar
  • 5 Sonnhammer EL, von Heijne G, Krogh A. A hidden Markov model for predicting transmembrane helices in protein sequences. Proc Int Conf Intell Syst Mol Biol 1998; 6: 175-182
    PubMedGoogle Scholar
  • 6 Claros MG, von Heijne G. TopPred II: an improved software for membrane protein structure predictions. Comput Appl Biosci 1994; 10 (6) 685-686
    PubMedGoogle Scholar
  • 7 Sayle RA, Milner-White EJ. RASMOL: biomolecular graphics for all. Trends Biochem Sci 1995; 20 (9) 374-376
    CrossrefPubMedGoogle Scholar
  • 8 Leuzzi V, Mastrangelo M, Battini R, Cioni G. Inborn errors of creatine metabolism and epilepsy. Epilepsia 2013; 54 (2) 217-227
    CrossrefPubMedGoogle Scholar
  • 9 Kanazawa K, Kumada S, Kato M, Saitsu H, Kurihara E, Matsumoto N. Choreo-ballistic movements in a case carrying a missense mutation in syntaxin binding protein 1 gene. Mov Disord 2010; 25 (13) 2265-2267
    CrossrefPubMedGoogle Scholar
  • 10 Wang JL, Cao L, Li XH , et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 2011; 134 (Pt 12) 3493-3501
    CrossrefPubMedGoogle Scholar
  • 11 Papale LA, Makinson CD, Christopher Ehlen J , et al. Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+). Epilepsia 2013; 54 (4) 625-634
    CrossrefPubMedGoogle Scholar