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Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.

In Vivo. 2014 Nov-Dec ;28(6):1193-6
Christos Yapijakis 1 , Stergios Gatzonis 2 , Sotirios Youroukos 3 , Vasiliki Kollia 4 , Stella Karachristianou 5 , Maria Anagnostouli 6
Christos Yapijakis 1 , Stergios Gatzonis 2 , Sotirios Youroukos 3 , Vasiliki Kollia 4 , Stella Karachristianou 5 , Maria Anagnostouli 6
+ et al

[No authors listed]

Author information
  • 1 First Department of Neurology, Eginition Hospital, University of Athens Medical School, Athens, Greece Cephalogenetics Research Center, Athens, Greece cyapijakis_ua_gr@yahoo.com.
  • 2 Department of Neurosurgery, University of Athens Medical School, Evangelismos Hospital, Athens, Greece.
  • 3 First Department of Pediatrics, Agia Sophia Hospital, University of Athens Medical School, Athens, Greece.
  • 4 Cephalogenetics Research Center, Athens, Greece.
  • 5 Third Department of Neurology, Papanikolaou Hospital, Aristotelian University of Thessaloniki Medical School, Thessaloniki, Greece.
  • 6 First Department of Neurology, Eginition Hospital, University of Athens Medical School, Athens, Greece.

摘要

BACKGROUND:Juvenile myoclonic epilepsy (JME), is an early-onset inherited generalized epilepsy which displays genetic heterogeneity, with at least 10 known loci. Another neurogenetic disease, dentato-rubro-pallido-luysian atrophy (DRPLA) presents three clinical phenotypes, one of which in Japanese displays many similarities to JME. AIM:The purpose of this study was to investigate whether the DRPLA gene is associated with JME in Caucasians. PATIENTS AND METHODS:The CAG repeat polymorphism in the DRPLA gene, which is expanded in patients with DRPLA, was examined with polymerase chain reaction amplification in 107 individuals of Greek origin, including 24 patients with sporadic and 8 with familial JME, 25 healthy relatives and 50 healthy controls. RESULTS:The repeat sizes of all studied individuals were within the normal range. DISCUSSION:These results seem to exclude the DRPLA gene as a major candidate gene for JME in this European population.

KEYWORDS: DRPLA, Greek population, Juvenile myoclonic epilepsy, dentato-rubro-pallido-luysian atrophy, trinucleotide repeat

基因

ATN1

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