Literature DB >> 20502595

Juvenile myoclonic epilepsy: is it an idiopathic epilepsy caused by a malformation of cortical development?

Michael Wong.   

Abstract

Entities:  

Year:  2010        PMID: 20502595      PMCID: PMC2873643          DOI: 10.1111/j.1535-7511.2010.01360.x

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  11 in total

1.  EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

Authors:  Laurence de Nijs; Bernard Lakaye; Bernard Coumans; Christine Léon; Takashi Ikeda; Antonio V Delgado-Escueta; Thierry Grisar; Grazyna Chanas
Journal:  Exp Cell Res       Date:  2006-05-26       Impact factor: 3.905

2.  EFHC1 interacts with microtubules to regulate cell division and cortical development.

Authors:  Laurence de Nijs; Christine Léon; Laurent Nguyen; Joseph J Loturco; Antonio V Delgado-Escueta; Thierry Grisar; Bernard Lakaye
Journal:  Nat Neurosci       Date:  2009-09-06       Impact factor: 24.884

3.  Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI.

Authors:  F G Woermann; S L Free; M J Koepp; S M Sisodiya; J S Duncan
Journal:  Brain       Date:  1999-11       Impact factor: 13.501

4.  Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.

Authors:  Shaochun Ma; Marcia A Blair; Bassel Abou-Khalil; Andre H Lagrange; Christina A Gurnett; Peter Hedera
Journal:  Epilepsy Res       Date:  2006-07-12       Impact factor: 3.045

5.  Neuropathological findings in primary generalized epilepsy: a study of eight cases.

Authors:  H J Meencke; D Janz
Journal:  Epilepsia       Date:  1984-02       Impact factor: 5.864

6.  Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Authors:  Patrick Cossette; Lidong Liu; Katéri Brisebois; Haiheng Dong; Anne Lortie; Michel Vanasse; Jean-Marc Saint-Hilaire; Lionel Carmant; Andrei Verner; Wei-Yang Lu; Yu Tian Wang; Guy A Rouleau
Journal:  Nat Genet       Date:  2002-05-06       Impact factor: 38.330

7.  The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.

Authors:  Takashi Ikeda; Kazuho Ikeda; Masahiro Enomoto; Min Kyun Park; Masafumi Hirono; Ritsu Kamiya
Journal:  FEBS Lett       Date:  2005-01-31       Impact factor: 4.124

8.  Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

Authors:  Toshimitsu Suzuki; Hiroyuki Miyamoto; Takashi Nakahari; Ikuyo Inoue; Takahiro Suemoto; Bin Jiang; Yuki Hirota; Shigeyoshi Itohara; Takaomi C Saido; Tadaharu Tsumoto; Kazunobu Sawamoto; Takao K Hensch; Antonio V Delgado-Escueta; Kazuhiro Yamakawa
Journal:  Hum Mol Genet       Date:  2009-01-15       Impact factor: 6.150

9.  Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Authors:  Toshimitsu Suzuki; Antonio V Delgado-Escueta; Kripamoy Aguan; Maria E Alonso; Jun Shi; Yuji Hara; Motohiro Nishida; Tomohiro Numata; Marco T Medina; Tamaki Takeuchi; Ryoji Morita; Dongsheng Bai; Subramaniam Ganesh; Yoshihisa Sugimoto; Johji Inazawa; Julia N Bailey; Adriana Ochoa; Aurelio Jara-Prado; Astrid Rasmussen; Jaime Ramos-Peek; Sergio Cordova; Francisco Rubio-Donnadieu; Yushi Inoue; Makiko Osawa; Sunao Kaneko; Hirokazu Oguni; Yasuo Mori; Kazuhiro Yamakawa
Journal:  Nat Genet       Date:  2004-07-18       Impact factor: 38.330

10.  Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Authors:  M T Medina; T Suzuki; M E Alonso; R M Durón; I E Martínez-Juárez; J N Bailey; D Bai; Y Inoue; I Yoshimura; S Kaneko; M C Montoya; A Ochoa; A Jara Prado; M Tanaka; J Machado-Salas; S Fujimoto; M Ito; S Hamano; K Sugita; Y Ueda; M Osawa; H Oguni; F Rubio-Donnadieu; K Yamakawa; A V Delgado-Escueta
Journal:  Neurology       Date:  2008-05-27       Impact factor: 9.910

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  1 in total

1.  Emotional Word Processing in Patients With Juvenile Myoclonic Epilepsy.

Authors:  Lucas Johannes Rainer; Martin Kronbichler; Giorgi Kuchukhidze; Eugen Trinka; Patrick Benjamin Langthaler; Lisa Kronbichler; Sarah Said-Yuerekli; Margarita Kirschner; Georg Zimmermann; Julia Höfler; Elisabeth Schmid; Mario Braun
Journal:  Front Neurol       Date:  2022-06-01       Impact factor: 4.086

  1 in total

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