Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11–p12: LRRC1, GCLC, KIAA0057 and CLIC5

@article{Suzuki2002IdentificationAM,
  title={Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11–p12: LRRC1, GCLC, KIAA0057 and CLIC5},
  author={Toshimitsu Suzuki and Ryoji Morita and Yoshihisa Sugimoto and Takashi Sugawara and Dongheng Bai and Mar{\'i}a Elisa Alonso and M. T. Medina and Julia N. Bailey and Astrid Rasmussen and Jaime N Ramos-Peek and Sergio Cordova and Francisco Rubio-Donnadieu and Adriana Ochoa and Aurelio Jara-Prado and Johji Inazawa and Antonio V. Delgado-Escueta and Kazuhiro Yamakawa},
  journal={Epilepsy Research},
  year={2002},
  volume={50},
  pages={265-275}
}
Mutations in EFHC1 cause juvenile myoclonic epilepsy
TLDR
A new gene is described in this region, EFHC1, which encodes a protein with an EF-hand motif that is associated with juvenile myoclonic epilepsy and which increased R-type Ca2+ currents that were reversed by the mutations associated with JME.
Absence ofGABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India
TLDR
The allele frequencies at two marker loci in GABRA1 shows a significant difference between the cases and controls, suggesting genetic association between JME and genes located in the proximity of the DNA marker, and the possibility of other mutation(s) in and aroundGABra1 that may predispose to JME.
Epilepsy & Seizure
TLDR
The recently generated Efhc1-deficient mouse was generated and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol, which further support and confirm the proposal that EFHC1 is the gene for JME.
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy
TLDR
This study asked if coding single nucleotide polymorphisms (SNPs) of EFHC1 also contribute as susceptibility alleles to JME with complex genetics.
EFHC1: A gene for juvenile myoclonic epilepsy
TLDR
Recently generated Efhc1-deficient mouse is generated and it is found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol, which further support and confirm the proposal that EFHC1 is the gene for JME.
Using experimental models to provide insights into mechanism of genetic generalised epilepsy
TLDR
The generated Efhc1-defi cient mouse and found that the mouse showed spontaneous myoclonus and increased susceptibility to a convulsant, pentylenetetrazol, supported and confi rmed that EFHC1 is the gene for JME.
Evidence for Linkage between Juvenile Myoclonic Epilepsy–Related Idiopathic Generalized Epilepsy and 6p11‐12 in Dutch Families
TLDR
These results indicate locus heterogeneity or interpopulation differences, thus underlining the importance of replication studies.
The Genetic Epilepsies
MRS shows syndrome differentiated metabolite changes in human-generalized epilepsies
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References

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A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein.
TLDR
Biochemical and immunocytochemical studies revealed that LMPB1 is indeed an integral membrane protein that targets to lysosomal structures and the C6orf33 gene is of interest as a candidate for EJM1.
Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait.
TLDR
Pairwise, multipoint, and recombination analyses in this large family independently proved that a JME gene is located in chromosome 6p, centromeric to HLA, and proved that in chromosomes 6p21.2-p11 an epilepsy locus exists whose phenotype consists of classic JME with convulsions and/or EEG rapid multispike wave complexes.
Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations.
TLDR
It is explored if the same chromosome 6p11 microsatellites also have a role in JME mixed with pyknoleptic absences and tested for heterogeneity by the admixture test and looked for more recombinations.
Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.
TLDR
This work confirms tight linkage of a JME locus to the HLA region of chromosome 6p, although at a larger recombination fraction than previously reported, and finds no significant evidence for linkage heterogeneity.
Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.
TLDR
Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14, which contributes to genetic susceptibility to JME in a majority of the families studied.
Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy
TLDR
The results in this large family provide evidence that a gene responsible for juvenile myoclonic epilepsy and the subclinical, 3.5‐ to 6.0‐Hz, polyspike‐wave or spike‐wave EEG pattern is located in chromosome 6p.
Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6
TLDR
A causative role of EJM1 in the pathogenesis of idiopathic generalized seizures in the majority of German families of JME patients is confirmed and a candidate region of 10.1 cM in the chromosomal region 6p21 between the flanking loci HLA-DQ and D6S1019 is refines.
Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy patients
TLDR
Findings support the conclusion that a gene locus for a group of idiopathic generalized epilepsies (JME, epilepsy with absences, and epilepsy with GTCS) maps to chromosome 6p.
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
TLDR
KCNQ2, KCNQ3 and undiscovered genes of the same family of K+ channels are strong candidates for other IGEs, and a missense mutation in the critical pore region in perfect co-segregation with the BFNC phenotype is found.
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