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An idiopathic epilepsy syndrome linked to 3q13.3‐q21 and missense mutations in the extracellular calcium sensing receptor gene
To identify the disease locus in a three‐generation south Indian family having several of its members affected with idiopathic epilepsy.
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Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE
Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromicExpand
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Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (−23G>T, I33T, 377_383dupTCCGCAT, W172R) andExpand
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A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy
Summary:  Purpose: Although complex idiopathic generalized epilepsies (IGEs) are recognized to have a significant genetic component, as yet there are no known common susceptibility variants. It hasExpand
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Association analysis of CAG repeats at the KCNN3 locus in Indian patients with bipolar disorder and schizophrenia.
Bipolar affective disorder and schizophrenia are severe behavioral disorders with a lifetime risk of approximately 1% in the population worldwide. There is evidence that these diseases may manifestExpand
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The polyglutamine motif is highly conserved at the Clock locus in various organisms and is not polymorphic in humans
Abstract. Circadian rhythms play a central role in diverse physiological phenomena and the recent years have witnessed the identification of a number of genes responsible for the maintenance of theseExpand
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Polymorphisms at the DRD2 locus in early‐onset alcohol dependence in the Indian population
The susceptibility to alcohol dependence is probably of polygenic origin. Association studies have attempted to identify possible candidate genes that may contribute to the risk to developingExpand
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Absence ofGABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India
An Ala322Asp mutation in theGABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. To studyExpand
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Clinical characteristics of a South Indian cohort of juvenile myoclonic epilepsy probands
Despite the distinctive clinical and electroencephalographic features known for five decades, even today, juvenile myoclonic epilepsy (JME) is frequently unrecognised and misdiagnosed in bothExpand
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A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3
Hot water epilepsy (HWE) is a form of reflex or sensory epilepsy wherein seizures are precipitated by an unusual stimulus, the contact of hot water over the head and body. Genome-wide linkageExpand
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