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The genetics of Landau Kleffner Syndrome

Aim

The project aims to identify novel genes which will contribute to the understanding of the disease mechanisms causing language impairment and seizures in this epileptic disorder.

What this means

We aim to identify the genes responsible for Landau Kleffner Syndrome in the hope this will help us to understand why it causes seizures and language difficulties. Understanding this will lead to more targeted and earlier treatment.

Update

The team has screened 50 patients for mutations in the gene, GRIN2A, previously reported to be a cause of Landau Kleffner Syndrome and related epilepsy syndromes in 8-20% of patients. Mutations were identified in six patients (12%). GRIN2A negative patients have had coding regions of their DNA screened for other disease-causing genes and analysis of this data is currently underway.

The team has identified GRIN2A mutations in seven patients (approximately 12%). Currently, functional investigations are ongoing to determine the effect of the novel GRIN2A mutations identified. Analysis of whole exome sequencing data continues, along with functional experiments to evaluate interesting potential candidate genes are underway.

Investigators

Adeline Ngoh, Maria Clark, Brian Neville, Helen Cross, Rebecca Greenaway, Rob Harvey, Dimitri Kullmann, Manju Kurian.

Read more about our other research projects

Cyber EssentialsFundraising RegulatorYoung Epilepsy is the operating name of The National Centre for Young People with Epilepsy (NCYPE).
Registered Charity number 311877 (England and Wales)

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