LETTER TO JMG

Protective and susceptibility effects of hSKCa3 allelic variants on juvenile myoclonic epilepsy

J Vijai¹, A Kapoor², H M Ravishankar², P J Cherian¹, G Kuruttukulam³, B Rajendran⁴, R Sridharan⁵, G Rangan⁶, A S Girija⁷, S Jayalakshmi⁸, S Mohandas⁸, K S Mani^9,*, K Radhakrishnan¹, A Anand²

¹ Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India
² Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, India
³ Lourdes Hospital, Cochin, India
⁴ West Side Hospital, Cochin, India
⁵ Apollo Hospital, Chennai, India
⁶ Sri Satya Sai Hospital, Bangalore, India
⁷ Department of Neurology, Medical College, Calicut, India
⁸ Department of Neurology, Nizam’s Institute of Medical Sciences, Hyderabad, India
⁹ Neurological Clinic, Bangalore, India

Correspondence to:
Correspondence to:
Dr Anuranjan Anand
Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore 560 064, India; anand@jncasr.ac.in

Received 12 June 2004
Revised version received 19 October 2004

Abbreviations: BFNC, benign familial neonatal convulsions; HWE, Hardy-Weinberg equilibrium; IGE, idiopathic generalised epilepsy; JME, juvenile myoclonic epilepsy; PCR, polymerase chain reaction

Keywords: case-control association; hSKCa3; juvenile myoclonic epilepsy; potassium channel; protective allele

The first 150 words of the full text of this article appear below.

Juvenile myoclonic epilepsy (JME; OMIM 606904) is a subtype of common idiopathic generalised epilepsy (IGE) and affects up to 26% of all individuals with IGE.^1–3 JME is characterised by the onset in adolescence of bilateral myoclonic jerks usually affecting the upper limbs.^1,4 Patients also have generalised tonic-clonic seizures and about one third experience absence seizures. Genetic factors are known to play an important role in the etiology of JME.^3,4 While identification of genes underlying predisposition to JME has been relatively slow due to clinical and genetic heterogeneity,^5,6 progress made so far in the isolation and characterisation of genes associated with other monogenic subtypes of IGE, provides evidence that most idiopathic epilepsy syndromes are caused by mutations in genes encoding ion channels.⁷ The implications of these findings in monogenic subtypes of the disorder for the complex polygenic subset are now being increasingly appreciated.⁸

Two types of voltage gated potassium channels . . . [Full text of this article]

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