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Literature DB >> 20730464

Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure.

Yang Lu¹, Weihua Yu, Zhiqin Xi, Zheng Xiao, Xiaoqin Kou, Xue-Feng Wang.

Abstract

Voltage-gated sodium channel genes are associated with idiopathic generalized epilepsy. Our group preciously identified a suggestive new locus on chromosome 11q22.1-23.3 in a five-generational Chinese epileptic family with generalized tonic-clonic seizure. SCN2B, SCN3B and SCN4B, which located at 11q22.1-23.3 locus, were chosen as candidate genes for this family. In the present study, genomic DNA was extracted in six affected family members. All exons of SCN2B, SCN3B and SCN4B were sequenced using direct DNA sequence analysis. The results showed that no mutation or polymorphism of coding regions of SCN2B, SCN3B and SCN4B was detected in the tested family members. Therefore, SCN2B, SCN3B and SCN4B are not major susceptibility genes contributed to our large family.

Entities: Disease Gene

Mesh：

Substances：

Year: 2010 PMID： 20730464 DOI： 10.1007/s10072-010-0390-6

Source DB: PubMed Journal: Neurol Sci ISSN： 1590-1874 Impact factor: 3.307

15 in total

1. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

Authors: T Sugawara; Y Tsurubuchi; K L Agarwala; M Ito; G Fukuma; E Mazaki-Miyazaki; H Nagafuji; M Noda; K Imoto; K Wada; A Mitsudome; S Kaneko; M Montal; K Nagata; S Hirose; K Yamakawa
Journal: Proc Natl Acad Sci U S A Date: 2001-05-22 Impact factor: 11.205

2. Report of the ILAE classification core group.

Authors: Jerome Engel
Journal: Epilepsia Date: 2006-09 Impact factor: 5.864

3. The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.

Authors: K Haug; T Sander; K Hallmann; B Rau; J S Dullinger; C E Elger; P Propping; A Heils
Journal: Neuroreport Date: 2000-08-21 Impact factor: 1.837

Review 4. Genetic focal epilepsies: state of the art and paths to the future.

Authors: Frederick Andermann; Eliane Kobayashi; Eva Andermann
Journal: Epilepsia Date: 2005 Impact factor: 5.864

5. Sodium-channel defects in benign familial neonatal-infantile seizures.

Authors: Sarah E Heron; Kathryn M Crossland; Eva Andermann; Hilary A Phillips; Allison J Hall; Andrew Bleasel; Michael Shevell; Suha Mercho; Marie-Helene Seni; Marie-Christine Guiot; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer
Journal: Lancet Date: 2002-09-14 Impact factor: 79.321

6. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

Authors: Patrick Cossette; Andrew Loukas; Ronald G Lafrenière; Daniel Rochefort; Eric Harvey-Girard; David S Ragsdale; Robert J Dunn; Guy A Rouleau
Journal: Epilepsy Res Date: 2003-02 Impact factor: 3.045

7. Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

Authors: Mao Sheng Yang; Xue Feng Wang; Wei Qin; Guo Yin Feng; Lin He
Journal: Neurosci Lett Date: 2003-08-07 Impact factor: 3.046

Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic-clonic seizure.

1. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction.

2. Report of the ILAE classification core group.

3. The voltage-gated sodium channel beta2-subunit gene and idiopathic generalized epilepsy.

Review 4. Genetic focal epilepsies: state of the art and paths to the future.

5. Sodium-channel defects in benign familial neonatal-infantile seizures.

6. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS).

7. Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

8. Hippocampal Nabeta3 expression in patients with temporal lobe epilepsy.

9. A novel SCN2A mutation in family with benign familial infantile seizures.

Review 10. Long-range control of gene expression: emerging mechanisms and disruption in disease.

Review 1. Regulation of Ion Channels by MicroRNAs and the Implication for Epilepsy.

2. Effects of GRM4, SCN2A and SCN3B polymorphisms on antiepileptic drugs responsiveness and epilepsy susceptibility.