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Journal of Neurology

, Volume 263, Issue 7, pp 1459–1460 | Cite as

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val

  • Katrine M. JohannesenEmail author
  • Maria J. Miranda
  • Holger Lerche
  • Rikke S. Møller
Letter to the Editors

Keywords

Status Epilepticus Sleep Deprivation Axon Initial Segment Neonatal Seizure Tonic Seizure 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Compliance with ethical standards

Conflicts of interest

The authors declare no conflicts of interest.

Ethical standard

This study was approved by the ethical committee of Western Zealand, Denmark. Parents provided informed written consent to publish clinical data and videos.

Supplementary material

Supplementary material 1 (MP4 190569 kb)

Supplementary material 2 (MP4 201580 kb)

Supplementary material 3 (MP4 147152 kb)

References

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    Herlenius E, Heron SE, Grinton BE, Keay D, Scheffer IE, Mulley JC, Berkovic SF (2007) SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia 48:1138–1142CrossRefPubMedGoogle Scholar
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    Liao Y, Anttonen AK, Liukkonen E, Gaily E, Maljevic S, Schubert S, Bellan-Koch A, Petrou S, Ahonen VE, Lerche H, Lehesjoki AE (2010) SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. Neurology 75:1454–1458CrossRefPubMedGoogle Scholar
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    Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H (2010) Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 133:1403–1414CrossRefPubMedGoogle Scholar
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    Schwarz N, Hahn A, Bast T, Muller S, Loffler H, Maljevic S, Gaily E, Prehl I, Biskup S, Joensuu T, Lehesjoki AE, Neubauer BA, Lerche H, Hedrich UB (2016) Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. J Neurol 263:334–343CrossRefPubMedGoogle Scholar
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    Yu FH, Catterall WA (2003) Overview of the voltage-gated sodium channel family. Genome Biol 4:207CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Katrine M. Johannesen
    • 1
    • 2
    Email author
  • Maria J. Miranda
    • 3
  • Holger Lerche
    • 4
  • Rikke S. Møller
    • 1
    • 2
  1. 1.The Danish Epilepsy CentreDianalundDenmark
  2. 2.Institute of Regional Health ServicesUniversity of Southern DenmarkOdenseDenmark
  3. 3.Department of PediatricsHerlev University Hospital, University of CopenhagenHerlevDenmark
  4. 4.Department of Neurology and Epileptology, Hertie Institute for Clinical Brain ResearchUniversity of TübingenTübingenGermany

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