Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

García‐Martín, Elena; Martı́nez, Carmen; Alonso‐Navarro, Hortensia; Benito‐León, Julián; Lorenzo‐Betancor, Oswaldo; Pástor, Pau; Puertas, Inmaculada; Rubio, Lluisa; López-Alburquerque, Tomás; Agúndez, José A. G.; Jiménez‐Jiménez, Félix Javier

doi:10.1097/fpc.0b013e328345bec0

Cited by 31 publications

(20 citation statements)

References 10 publications

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“…In family S23, an 8-year-old boy with infantile spasms is homozygotes for a variant of c.1355 G>T (p.Arg452Leu) in GABRE gene that is inherited from healthy parents. GABRE is mapped to the chromosome Xq28 and encodes a gamma-aminobutyric acid (GABA) A receptor epsilon polypeptide that involves in the GABAergic neurotransmission of the mammalian central nervous system3233. Several other members of GABA receptor but not GABRE have been implicated in human epilepsy in human3435.…”

Section: Resultsmentioning

confidence: 99%

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Wang

Rao

et al. 2017

Sci Rep

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Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and lay the foundation to develop molecular specific treatment. However, the molecular basis for a majority of epilepsy patients remains elusive, and furthermore, most of these studies have been conducted in Caucasian children. Here we conducted a targeted exome-sequencing of 63 trios of Chinese epilepsy families using a custom-designed NGS panel that covers 412 known and candidate genes for epilepsy. We identified pathogenic and likely pathogenic variants in 15 of 63 (23.8%) families in known epilepsy genes including SCN1A, CDKL5, STXBP1, CHD2, SCN3A, SCN9A, TSC2, MBD5, POLG and EFHC1. More importantly, we identified likely pathologic variants in several novel candidate genes such as GABRE, MYH1, and CLCN6. Our results provide the evidence supporting the application of custom-designed NGS panel in clinic and indicate a conserved genetic susceptibility for epilepsy between Chinese and Caucasian children.

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Section: Resultsmentioning

confidence: 99%

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Wang

Rao

et al. 2017

Sci Rep

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“…García-Martin et al31 published two further negatives studies in 2011. In the first, they investigated the possible association between the GABA receptor subtypes rho1, rho2, and rho3 and allelic variants of the single nucleotide polymorphisms GABRR1-M26V, GABRR1-H27R, GABRR2-T455M, and GABRR3-Y205X and the risk of ET.…”

Section: Introductionmentioning

confidence: 99%

The GABA Hypothesis in Essential Tremor: Lights and Shadows

Gironell

2014

Tremor and Other Hyperkinetic Movements

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“…Thier and coworkers recently identified an intronic variant of the glial glutamate transporter gene SLC1A2 as a potential ET susceptibility gene [76]. No evidence of an association between GABA receptor or transporter genes has been found in patients with ET [77–79], even though the alcohol sensitivity of many patients has led investigators to hypothesize a disturbance of GABA inhibition in ET.…”

Section: Introductionmentioning

confidence: 99%

What is Essential Tremor?

Elble

2013

Curr Neurol Neurosci Rep

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Classic essential tremor is a clinical syndrome of action tremor in the upper limbs (at least 95% of patients) and less commonly the head, face/jaw, voice, tongue, trunk, and lower limbs, in the absence of other neurologic signs. However, the longstanding notion of that essential tremor is a monosymptomatic tremor disorder is being challenged by a growing literature describing associated disturbances of tandem walking, personality, mood, hearing and cognition. There is also epidemiologic, pathologic and genetic evidence that essential tremor is pathophysiologically heterogeneous. Misdiagnosis of essential tremor is common because clinicians frequently overlook other neurologic signs and because action tremor in the hands is caused by many conditions, including dystonia, Parkinson disease and drug-induced tremor. Thus, essential tremor is nothing more than a syndrome of idiopathic tremulousness, and the challenge for researchers and clinicians is to find specific etiologies of this syndrome.

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Gamma-aminobutyric acid GABRA4, GABRE, and GABRQ receptor polymorphisms and risk for essential tremor

Cited by 31 publications

References 10 publications

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

The GABA Hypothesis in Essential Tremor: Lights and Shadows

What is Essential Tremor?

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