Juvenile Myoclonic Epilepsy Is Not Associated with the DRPLA Gene in a European Population

被引：0

作者：

Yapijakis, Christos ^{[1
,2
]}

Gatzonis, Stergios ^{[3
]}

Youroukos, Sotirios ^{[4
]}

Kollia, Vasiliki ^{[2
]}

Karachristianou, Stella ^{[5
]}

Anagnostouli, Maria ^{[1
]}

机构：

[1] Univ Athens, Eginit Hosp, Sch Med, Dept Neurol 1, GR-11528 Athens, Greece

[2] Cephalogenet Res Ctr, Athens, Greece

[3] Univ Athens, Sch Med, Evangelismos Hosp, Dept Neurosurg, GR-11528 Athens, Greece

[4] Univ Athens, Sch Med, Agia Sophia Hosp, Dept Pediat 1, GR-11528 Athens, Greece

[5] Aristotle Univ Thessaloniki, Sch Med, Papanikolaou Hosp, Dept Neurol 3, GR-54006 Thessaloniki, Greece

来源：

IN VIVO | 2014年 / 28卷 / 06期

关键词：

Juvenile myoclonic epilepsy; dentato-rubro-pallido-luysian atrophy; DRPLA; trinucleotide repeat; Greek population; DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; IDIOPATHIC GENERALIZED EPILEPSY; DENTATORUBROPALLIDOLUYSIAN ATROPHY; SUSCEPTIBILITY LOCUS; EPISODIC ATAXIA; CAG REPEATS; FAMILY; MUTATIONS; EXPANSION; SEIZURES;

D O I：

暂无

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

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.

引用

页码：1193 / 1196

页数：4

共 50 条

[1] Juvenile myoclonic epilepsy in a paediatric population
Chorao, R
Tavares, D
Ribeiro, A
Santos, M
[J]. EPILEPSIA, 2004, 45 : 196 - 196
[2] MAPPING THE GENE FOR JUVENILE MYOCLONIC EPILEPSY
DELGADOESCUETA, AV
GREENBERG, DA
TREIMAN, L
LIU, A
SPARKES, RS
BARBETTI, A
PARK, MS
TERASAKI, PI
[J]. EPILEPSIA, 1989, 30 : S8 - S18
[3] Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation
Singh, Neeraj
Ritaccio, Anthony
[J]. EPILEPSY & BEHAVIOR REPORTS, 2020, 13
[4] EYE CLOSURE SENSITIVITY IN A POPULATION OF JUVENILE MYOCLONIC EPILEPSY
Sofia, V
Pappalardo, I
Garifoli, A.
Lingenti, V
Leonardi, C. G.
Vitale, G.
Giuliano, L.
Chiara, S.
Zappia, M.
[J]. EPILEPSIA, 2011, 52 : 151 - 151
[5] Juvenile myoclonic epilepsy
Ghigo, J
Niedermeyer, E
[J]. AMERICAN JOURNAL OF ELECTRONEURODIAGNOSTIC TECHNOLOGY, 2000, 40 (04): : 255 - 267
[6] Juvenile myoclonic epilepsy
Salas-Puig, J
Calleja, S
Jiménez, L
González-Delgado, M
[J]. REVISTA DE NEUROLOGIA, 2001, 32 (10) : 957 - 961
[7] Juvenile myoclonic epilepsy
Alfradique, Isabel
Vasconcelos, Marcio Moacyr
[J]. ARQUIVOS DE NEURO-PSIQUIATRIA, 2007, 65 (4B) : 1266 - 1271
[8] JUVENILE MYOCLONIC EPILEPSY
LOISEAU, P
DUCHE, B
[J]. REVUE NEUROLOGIQUE, 1990, 146 (12) : 719 - 725
[9] Juvenile myoclonic epilepsy
Genton, P
Gelisse, P
[J]. ARCHIVES OF NEUROLOGY, 2001, 58 (09) : 1487 - 1490
[10] JUVENILE MYOCLONIC EPILEPSY
CLEMENT, MJ
WALLACE, SJ
[J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1988, 63 (09) : 1049 - 1053

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