Possible association between childhood absence epilepsy and the gene encoding GABRB3

Feucht, Martha; Fuchs, Karoline; Pichlbauer, Ernest; Hornik, Kurt; Scharfetter, Joachim; Goessler, Ralph; Füreder, T.; Cvetkovic, Nevenka; Sieghart, Werner; Kasper, Siegfried; Aschauer, Harald

doi:10.1016/s0006-3223(99)00039-6

Cited by 54 publications

(36 citation statements)

References 27 publications

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“…Other recurrent mutations were found in the same study in the GABBR2, FASN, and RYR3 genes [92]. Variants in GABRB3, encoding the beta 3 subunit of the gamma-aminobutyric acid GABA A receptor, had previously been suggested to act as susceptibility factors for childhood absence epilepsy [93][94][95]. Mutations in the SCN2A, CHD2, GABRA1, and GRIN2B genes also reported by the Epi4K consortium, in patients with IEES, have been confirmed by further studies [55,96,97].…”

Section: 2supporting

confidence: 55%

Epilepsy genetics: The ongoing revolution

Lesca

Depienne

2015

Revue Neurologique

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Section: 2supporting

confidence: 55%

Epilepsy genetics: The ongoing revolution

Lesca

Depienne

2015

Revue Neurologique

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“…Recent studies discovered two gene mutations in CAE probands with further epileptic or other neurological features [19,27] and several susceptibility loci [8,12,13,14,20,24,26,27] supporting genetic heterogeneity and the hypothesis of fundamental biological differences within IGE syndromes and even CAE subsyndromes. These findings may account for the different prognostic scenarios for a child with CAE, namely either entering remission of absences or evolving into other IGE syndromes (e. g. JME) either with later development of GTCS or myoclonic seizures or both [8,13,28,29].…”

Section: Discussionmentioning

confidence: 99%

Long-term prognosis for childhood and juvenile absence epilepsy

et al. 2004

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“…This same allele shows reduced transmission in the previous positive study, 2 and it also shows reduced transmission in childhood absence epilepsy (referred to as allele 95 in that study). 14 The apparent decrease in transmission of the 87-bp allele could reflect one of two things. First, the allele might actually be protective, as has been suggested for HLA-DQ or HLA-DR in IDDM 15 and Apo E2 in Alzheimer's disease.…”

mentioning

confidence: 99%

Association between a GABRB3 polymorphism and autism

et al. 2002

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Autistic disorder (OMIM 209850) is a disease with a significant genetic component of a complex nature. 1 Cytogenetic abnormalities in the Prader-Willi/Angelman syndrome critical region (15q11-13) have been described in several individuals with autism. 1 For this reason, markers across this region have been screened for evidence of linkage and association, and a marker (155CA-2) in the ␥-aminobutyric acid type-A receptor ␤3 subunit gene (GABRB3) has been associated in one study 2 but not others. [3][4][5] We completed an association analysis with 155CA-2 using the transmission disequilibrium test (TDT) in a set of 80 autism families (59 multiplex and 21 trios). We also used four additional markers (69CA, 155CA-1, 85CA, and A55CA-1) localized within 150 kb of 155CA-2. The use of multi-allelic TDT (MTDT) (P < 0.002), as well as the TDT (P < 0.004), demonstrated an association between autistic disorder and 155CA-2 in these families. Meiotic segregation distortion could be excluded as a possible cause for these results since no disequilibrium was observed in unaffected siblings. These findings support a role for genetic variants within the GABA receptor gene complex in 15q11-13 in autistic disorder. Molecular Psychiatry ( Autism is a development disorder characterized by impairments in three domains: communication, reciprocal social interactions, and repetitive or stereotyped behaviors and interests (for review see TagerFlusberg et al 1 ). The concordance rate for monozygotic twins is much higher than that of dizygotic twins, which indicates that genetic factors play an important role in the etiology of autism. In addition, family studies indicate that the recurrence risk to siblings, estimated from multiple studies at 1-3%, is profoundly higher than the risk to the general population, which has been estimated at ෂ0.5-2 per 1000. The mode of inheritance of autism appears to be complex; latentclass analyses suggest that 3-10 genes may underlie the disorder, 6 although an interpretation of at least one genome-wide linkage analysis has argued for Ͼ10 genes underlying the disorder. 7 Cytogenetic studies have demonstrated that duplications within the 15q11-q13 region can be associated with autism (for review see Tager-Flusberg et al 1 ). Moreover, symptoms of autism can be associated with both Prader-Willi and Angelman syndromes, both of which involve alterations in the 15q11-q13 region. Because of this, the15q11-q13 region has been examined for genetic linkage to autism. A mapping of nine markers spanning a region of ෂ2 Mb within this region in 132 families demonstrated linkage disequilibrium at a marker within the GABRB3 gene, 155CA-2. 2 An additional locus within GABRB3 that is ෂ150 kb away from 155CA-2 (D15S97) did not demonstrate linkage disequilibrium.A genome-wide scan involving 51 autistic multiplex families demonstrated a broad peak with a LOD score of about 1 over the GABRB3 region. 8 Similarly, multipoint analyses over the region in 63 families demonstrated a peak Z-score of 1.78 in the region, near the marker ...

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Possible association between childhood absence epilepsy and the gene encoding GABRB3

Cited by 54 publications

References 27 publications

Epilepsy genetics: The ongoing revolution

Epilepsy genetics: The ongoing revolution

Long-term prognosis for childhood and juvenile absence epilepsy

Association between a GABRB3 polymorphism and autism

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