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The genetics of early onset epileptic encephalopathy

Aim

The project aims to identify novel early onset epileptic encephalopathy genes which will contribute to the understanding of the disease mechanisms involved in such epilepsies.

What this means

We want to know what has caused the epilepsy so we can better understand the processes in the brain that have gone wrong. We hope to use some new treatments for these processes that might now only apply to this rare epilepsy but also to some more common epilepsies. So far, we have found a previously unidentified gene which causes a severe early onset epilepsy.

Investigators

Amy McTague, Helen Cross, Dimitri Kullmann, Rod Scott, Manju Kurian

Update

Following investigation in the early onset epileptic encephalopathy cohort, 12 patients have been identified to have mutation in KCNT1. This series has been described in a manuscript undergoing minor revision for Neurology. Further gene discovery work is ongoing and investigation of the cohort has also lead to expansion of the phenotypes of the known genes such as RARS2, PLCB1, GABRB3, TBC1D24, FOXG1 and GNA01.

Read more about 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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