CACNA1G overexpression induces spike-wave discharges

This paper demonstrates that overexpression of CACNA1G using a transgenic mouse model results in spike-wave discharges and absence seizures, indicating that enhancement of T-type calcium currents is sufficient for the generation of absence seizures.

The authors demonstrate that CACNA1G mediated currents are both necessary sufficient for the generation of absence seizures.  Genetic ablation of this gene actually makes mice resistent against spike-wave discharges when introduced into other mouse models.

Ingo

This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. CACNA1G overexpression induces spike-wave discharges. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

PCDH19 mutations in Dravet-like syndrome

PCDH19 is the gene for EFMR (Epilepsy and mental retardation limited to females), a familial X-linked epilepsy which only affects females.  This paper describes mutations in PCDH19 in patients with a phenotype resembling Dravet syndrome.

It will be interesting to see whether mutations in PCDH19 can be identified in a significant subset of patients with Dravet syndrome negative for SCN1A mutations. Ingo

This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. PCDH19 mutations in Dravet-like syndrome. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

The return of CLCN2

The role of CLCN2 mutations in IGE remains questionable. This paper by Saint-Martin et al. describes two novel CLCN2 variants in Idiopathic Generalised Epilepsy and show that the variation has functional effects on channel function.

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This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. The return of CLCN2. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

Large deletions and hotspots in human disease

This paper by Itsara et al. investigates the importance of large copy number variations in human population, showing that large deletions are generally rare and probably deleterious. A meta-analysis of published studies further highlights several genomic hotspots as candidate genes for human genomic disorders.

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This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. Large deletions and hotspots in human disease. Retrieved [enter date], from http://www.euroepinomics.wordpress.com

BRE and association with ELP4

The genetics of Benign Rolandic Epilepsy (BRE) is complicated and now genetic variants predisposing to BRE have been discovered to date. This study now shows association of the BRE phenotype and phenotype of centrotemporal spikes (CTS) with an intronic SNP in ELP4 (Elongator Protein Complex 4) in a genome-wide linkage scan and subsequent confirmation in a small association study.

Ingo

This 2009 blog post has been transferred to the EuroEPINOMICS blog from www.epilepsygenetics.net.

Please quote this blog (APA format) as

Helbig, I. BRE and association with ELP4. Retrieved [enter date], from http://www.euroepinomics.wordpress.com