publication . Article . 2016

EPILEPSY CAUSED BY PCDH19 GENE MUTATION: A REVIEW OF LITERATURE AND THE AUTHORS’ OBSERVATIONS

K. Yu. Mukhin; O. A. Pylaeva; A. F. Dolinina; S. Moiseeva; Yu. V. Verbitskaya; A. S. Petrukhin; G. Kluger; H. Holthausen; M. Staudt;
Open Access
  • Published: 01 Aug 2016 Journal: Russian Journal of Child Neurology, volume 11, pages 26-32 (issn: 2073-8803, eissn: 2412-9178, Copyright policy)
  • Publisher: Publishing House ABV Press
Abstract
Mutation in the PCDH19 gene was first described by L.M. Dibbens et al. in 2008. Mutations in this gene are associated with epilepsy and mental retardation limited to females. The clinical manifestations that are observed in some patients with PCDH19 mutation and Dravet syndrome that is caused by mutation in the SCN1A gene include the onset of febrile and afebrile seizures in infancy, serial seizures during fever, and regression in development after the onset of seizures. Due to the fact that the two diseases have common clinical signs, it is best to test for PCDH19 mutation in patients with the clinical picture of Dravet syndrome and a negative test for SCN1A. I...
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free text keywords: mutation in the pcdh19 gene, epilepsy and mental retardation limited to females, epilepsy, epileptic seizure, development retardation, clinical manifestations, diagnosis, treatment, antiepileptic drugs, Valproic Acid, medicine.drug, medicine, Anesthesia, Topiramate, Pediatrics, medicine.medical_specialty, Levetiracetam, Epilepsy, medicine.disease, Dravet syndrome, Oxcarbazepine, Epileptic seizure, medicine.symptom, business.industry, business, Status epilepticus, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429
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