Page 125 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
giráldeZ Bg, serratosa Jm. Jeavons syndrome as an occipital cortex initiated generalized epilepsy: Further ev- idence from a patient with a photic-induced occipital sei- zure. Seizure 2015;32:72-4.
Berthier a, PaYa P, garcía-caBrero am, Ballester mi, heredia m, serratosa Jm, sáncheZ mP, sanZ P. Phar- macológicalinterventions to ameliorateneuropathológi- calsymptoms in a mouse model of Lafora disease. Mol Neurobiol 2016;53:1296-309.
res, gonZáleZ m, Züchner s, Palotie a, suls a, de Jong- he P, helBig i, BisKuP s, WolFF m, malJeVic s, schüle r, sisodiYa sm, WecKhuYsen s, lerche h, lemKe Jr. De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet 2015;47:393-9.
ortega-moreno l, giráldeZ Bg, Verdú a, garcía-camPos o, sáncheZ-martín g, serratosa Jm, guerrero-lóPeZ r. Novel mutation in STXBP1 gene in a patient with non-le- sional Ohtahara syndrome. Neurología 2015;24. pii:
sYrBe s, hedrich uB, riesch e, dJémié t, müller s, møller rs, maher B, hernándeZ hernándeZ l, sYnoFZiK m, caglaYan hs, arslan m, serratosa Jm, nothnagel m, maY P, Krause r, löFFler h, detert K, dorn t, Vogt h, Krämer g, schöls l, mullis Pe, linnanKiVi t, lehesJoKi ae, sterBoVa K, craiu dc, hoFFman-ZacharsKa d, KorFF cm, WeBer Yg, steinlin m, gallati s, Bertsche a, Bern- hard mK, merKenschlager a, Kiess W; euroePinomics
Highlights
UNIT 744 aims to: a) The identification and charac- terization of genes involved in familial and sporadic genetic epilepsies (mainly epileptic encephalopa- thies of childhood), b) The generation of diagnostic and therapeutic tools that improve the quality of life of patients and families affected by these diseases, c) The understanding and treatment of Lafora dis- ease by studying animal models in order to translate findings to clinical practice.
During 2015 we have initiated the study of full ex- omes in familial genetic epilepsies and in epileptic encephalopathies of childhood. In addition, we have described a new mutation in the STXBP1 gene re- sponsible for an epileptic encephalopathy starting in the first months of life.
Unit 744 has continued leading of the Spanish Group of Genetics of Childhood Epilepsies GEGEI (www.gegei.es).
During this year we continued with pharmacological studies in animal models of Lafora disease in order to prepare a clinical trial in patients. We have also continued with a clinical trial studying the efficacy of Lacosamide in nocturnal seizures and developed
S0213-4853(14)00243-6.
giráldeZ Bg, guerrero-lóPeZ r, ortega-moreno l, Verdú a, carrascosa-romero mc, garcía-camPos ó, garcía-muñoZguren s, Pardal-FernándeZ Jm, serra- tosa Jm. Uniparental disomy as a cause of spinal mus- cular atrophy and progressive myoclonic epilepsy: phe- notypic homogeneity due to the homozygous c.125C>T mutation in ASAH1. Neuromuscul Disord 2015;25:222-4.
devices to measure the frequency of nocturnal sei- zure in the patient’s home.
At ian nternational level we have represented Spain in the “Collaborative Research Project (CRP) on Rare Epilepsy Syndromes” of EUROEPINOMICS (European Science Foundation) participating in the identification of new genes in different types of rare epilepsy syndromes. We have also participated in preparing and submitting the grant “Lafora Epilep- sy - Basic Mechanisms to therapy” to the American NINDS (Program Project or PO1, under evaluation).
Unit 744 offers the possibility of clinical and genetic studies to patients with rare epilepsies.
Projects:
SAF2014-59594-R: Genetics of human epilepsies: identification of new genes, early diagnosis and clin- ical utility.
SAF2013-48960-P: Genetics of human epilepsies: towards early diagnosis and personalized therapy.
Institution: Fundación Instituto de Investigación Sanitaria Fundación Jiménez Díaz
Contact: Instituto de Investigación Sanitaria - Fundación Jiménez Díaz
Avda. Reyes Católicos, 2. 28040 Madrid · Tel.: 91 550 48 00 Ext 3251· E.mail: [email protected]
CIBERER I Annual report 2015 I 125