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A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

AuthorsMario Mastrangelo, Davide Mei, Serena Cesario, Francesca Fioriello, Laura Bernardini, Mario Brinciotti, Renzo Guerrini, Vincenzo Leuzzi
JournalParkinsonism & related disorders (Parkinsonism Relat Disord) Vol. 68 Pg. 1-3 (11 2019) ISSN: 1873-5126 [Electronic] England
PMID31621611 (Publication Type: Case Reports, Letter)
Chemical References
  • Sodium Channels
Topics
  • Chromosomes, Human, Pair 2 (genetics)
  • Developmental Disabilities (diagnosis, etiology, genetics)
  • Epilepsies, Myoclonic (complications, diagnosis, genetics)
  • Gene Deletion
  • Humans
  • Hyperkinesis (diagnosis, etiology, genetics)
  • Infant
  • Male
  • Sodium Channels (genetics)

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