Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18

@article{Nakayama2004LinkageAA,
  title={Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18},
  author={Junko Nakayama and Naomasa Yamamoto and Kenzo Hamano and Nobuaki Iwasaki and Masayasu Ohta and Satoko Nakahara and Akira Matsui and Emiko Noguchi and Tadao Arinami},
  journal={Neurology},
  year={2004},
  volume={63},
  pages={1803 - 1807}
}
Background: Febrile seizures (FSs) are the most common form of childhood seizures, and genetic factors play a role in susceptibility to FS. Objective: To identify novel loci and genes associated with susceptibility to FS. Methods: Study participants were the FS probands and family members of 59 Japanese nuclear families (223 members including 112 affected children). Forty-eight of these families had at least two affected children for which genome-wide linkage screening was carried out. The… 
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+
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A novel susceptibility locus for genetic epilepsy with febrile seizures plus at 6q16.3-22.31, in which there are no known genes associated with ion channels or neurotransmitter receptors is reported.
Genetic susceptibility to febrile seizures: Case-control association studies
TLDR
Data suggest that cytokine genes may act as enhancers or attenuators of FS susceptibility, and genetic association study may be an effective approach to understanding the molecular basis of FS at least in a subgroup of patients.
Genetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients
TLDR
The data suggest that the genetic variants in the IMPA2 gene are not associated with a risk of FS in Caucasian patients and patients from various genetic groups are likely to have different genetic causes of FS.
A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33
TLDR
A four-generation Chinese family with autosomal dominant febrile seizure and epilepsy was studied by genome-wide linkage analysis, and another novel locus on chromosome 3q26.2–26.33 was identified, which will identify a new gene for combined FS and idiopathic epilepsies.
A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family
TLDR
The findings suggest that TBC1D22A is a new locus for GEFS+, a familial epilepsy syndrome with extremely variable expressivity showing an autosomal recessive mode of inheritance.
Genetic background of febrile seizures
TLDR
The proinflammatory cytokine interleukin 1β was the most investigated and also gene associated with susceptibility to FS, and a possible role in the overlapping of epilepsy and FS was found for 16 of 36 investigated genes.
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy
TLDR
This study suggests that CPA6 is genetically linked to an AR familial form of FS and TLE, and is associated with sporadic TLE cases.
New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p
TLDR
Epilepsy in association with febrile seizures might result in this family from an interaction between at least two genes: the gene on 3p and a possible modifier gene on 18p.
Febrile seizures are associated with mutation of seizure‐related (SEZ) 6, a brain‐specific gene
TLDR
The human SEZ‐6 gene is related to the occurrence and development of FS and may be a novel candidate gene for epilepsy, and Screening for mutations in SEz‐6 may be valuable in predicting FS recurrence or the development of epilepsy.
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References

SHOWING 1-10 OF 32 REFERENCES
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
TLDR
Findings indicate that there is a gene on chromosome 5q14-q15 that confers susceptibility to FSs and it is called FEB4 and this gene is linked to some large families.
A locus for simple pure febrile seizures maps to chromosome 6q22-q24.
TLDR
A clinical and genetic study of three families with simple FS segregating as an autosomal dominant (AD) trait with high penetrance finds a new locus on chromosome 6q22-q24 seems to be the first identified locus responsible for pure simple FS, the most frequent form of FS.
Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest.
TLDR
Haplotype analysis using both affected and unaffected family members indicates that this febrile convulsion gene, which is called FEB2, can be localized to an 11.7 cM, 1-2 Mb section of chromosome 19p13.
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
TLDR
A large and remarkable family is described in which febrile convulsions appear to result from autosomal dominant inheritance at a single major locus at chromosome 8q13-21.
A locus for febrile seizures (FEB3) maps to chromosome 2q23‐24
TLDR
A large Utah family with 21 members affected by febrile seizures inherited as an autosomal dominant trait is reported, finding significant evidence for a new febRIle seizure locus (FEB3) on chromosome 2q23‐24 with linkage to the marker D2S2330.
A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
TLDR
The results suggest that a loss‐of‐function mutation in MASS1 might be responsible for the seizure phenotypes, though it is not likely that MASS 1 contributed to the cause of febrile seizures in most of the authors' families.
A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions.
TLDR
The GABRG2 gene seems to confer a rare rather than a frequent major susceptibility effect to common idiopathic absence epilepsy syndromes, and a splice-donor-site mutation was identified that was probably causing a nonfunctional GAB RG2 subunit.
Evidence for association of the myo-inositol monophosphatase 2 (IMPA2) gene with schizophrenia in Japanese samples
TLDR
It is suggested that IMPA2 or a gene nearby may contribute to the overall genetic risk for schizophrenia among Japanese and increase the relevance of 18p11.2 to schizophrenia susceptibility because GNAL, which has been shown previously to be implicated in schizophrenia in an independent study, is in close physical proximity.
Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.
TLDR
It is demonstrated that the LGI1 protein, which contains several leucine-rich repeats, is expressed ubiquitously in the neuronal cell compartment of the brain and provides evidence for genetic heterogeneity within this disorder.
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
TLDR
It is shown that co-expression of the mutant ß1 subunit with a brain Na+-channel ß subunit in Xenopus laevis oocytes demonstrates that the mutation interferes with the ability of the subunit to modulate channel-gating kinetics consistent with a loss-of-function allele, developing the theme that idiopathic epilepsies are a family of channelopathies.
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