Mutations in EFHC1 cause juvenile myoclonic epilepsy

@article{Suzuki2004MutationsIE,
  title={Mutations in EFHC1 cause juvenile myoclonic epilepsy},
  author={Toshimitsu Suzuki and Antonio V. Delgado-Escueta and Kripamoy Aguan and Mar{\'i}a Elisa Alonso and Jun Shi and Yuji Hara and Motohiro Nishida and Tomohiro Numata and M. T. Medina and Tamaki Takeuchi and Ryoji Morita and Dongsheng Bai and Subramaniam Ganesh and Yoshihisa Sugimoto and Johji Inazawa and Julia N. Bailey and Adriana Ochoa and Aurelio Jara-Prado and Astrid Rasmussen and Jaime N Ramos-Peek and Sergio Cordova and Francisco Rubio-Donnadieu and Yushi Inoue and Makiko Ōsawa and Sunao Kaneko and Hirokazu Oguni and Yasuo Mori and Kazuhiro Yamakawa},
  journal={Nature Genetics},
  year={2004},
  volume={36},
  pages={842-849}
}
Juvenile myoclonic epilepsy (JME) is the most frequent cause of hereditary grand mal seizures. We previously mapped and narrowed a region associated with JME on chromosome 6p12–p11 (EJM1). Here, we describe a new gene in this region, EFHC1, which encodes a protein with an EF-hand motif. Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control… Expand
Mutations of EFHC 1 , linked to juvenile myoclonic epilepsy , disrupt radial and tangential migrations during brain development
Heterozygous mutations in Myoclonin1/EFHC1 cause juvenile myoclonic epilepsy (JME), the most common form of genetic generalized epilepsies, while homozygous F229L mutation is associated with primaryExpand
Microtubule‐associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy
TLDR
The observations strengthen the evidence supporting a role for EFHC1 in JME in a population ethnically and geographically distinct from the one in which the gene was initially identified, and broaden the extent of allelic heterogeneity in the gene. Expand
Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
TLDR
It is shown how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established. Expand
Juvenile Myoclonus Epilepsy : Dual role for EFHC 1 in the Etiology ?
Mutations in EFHC1 gene causes juvenile myoclonic epilepsy (JME) which is the most common of idiopathic generalized epilepsy, accounting for 7% of all epilepsies. Being a non-ion channel gene,Expand
Epilepsy & Seizure
We originally reported mutations of EFHC1 gene in patients with juvenile myoclonic epilepsy (JME). Subsequently, several other groups reported additional EFHC1 mutations in patients with JME and alsoExpand
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients
TLDR
The absence of a majority of previously reported mutations in this population suggests that most of the mutations of EFHC1 are confined to particular ethnicities and are not evenly distributed across the world. Expand
Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Myoclonin1, also known as mRib72-1, is encoded by the mouse Efhc1Expand
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
TLDR
Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1, the highest number and percentage of mutations found for a juvenile myclonic epilepsy causing gene of any population group. Expand
Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey
TLDR
A 26-year-old male patient admitted to the authors' epilepsy outpatient clinic unit with one generalized tonic-clonic seizure and with previous myoclonic seizures started at the age of 17 years described as jerky movements is reported for the first time. Expand
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy
TLDR
The data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes, and these genes are not considered informative enough to analyze candidate loci for JME using linkage analysis. Expand
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