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s s. Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes.
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Highlights
Unit 744 of CIBERER aims to identify and characterize genes involved in focal or genera-
lized familial epilepsies and rare forms of epilepsy to generate diagnostic and therapeutic

tools that improve the care of patients affected by these diseases. During the year 2013
we have obtained the following results:

We have designed a diagnostic panel for the analysis of genes associated with rare forms

of epilepsy and epileptic encephalopathies in childhood to assess its utility as a diagnostic
tool and to transfer it to Neurology and Genetics Services of Fundación Jiménez Díaz.

We have continued with the initiative led by U744 (Spanish Group of Genetics of Child-
hood Epilepsy , GEGEI , www.gegei.es)

At international level, currently we represent Spain in the “Collaborative Research Project

(CRP) on Rare Epilepsy Syndromes of EUROEPINOMICS (European Science Foundation).
Collaborative studies on epilepsy, in which unit U744 has been involved, have identified

new genes and susceptibility loci in different types of rare epileptic syndromes (see pu-
blications section).

We have continued with the study of animal models of Lafora disease and frontotemporal

dementia.

Our group is actively involved in clinical trials (Phase II, III and IV) and currently is run- ó
ning an in-house designed clinical trial that includes the development and use of devices
to monitor seizures at home.
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We have also participated in the official clinical practice guideline on epilepsy of the Spa- 20
éT
nish Neurological Society.
OR
P
Our group works closely with the Dementia Unit at the Fundacin Jimnez Díaz and has RE
collaborated in studies at European level on Huntington ‘s disease.
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A
NU
N
PROJECTS
A
R /
SAF2010/18586 (2010-2014) and EUI-EURC-2011-4325 (2011-2014) from Ministry of E
Economy and Competitiveness.
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B
CI

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