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Most relevant scientific articles
• orteGa-moreno l, GiralDez bG, VerDu a, Garcia-campos o, sancHez-martin G, serratosa Jm, et al . Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome . Neurologia 2015 .
• GiralDez bG, Guerrero-lopez r, orteGa-moreno l, VerDu a, carrascosa-romero mc, Garcia-campos o, et al . Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: Pheno- typic homogeneity due to the homozygous c .125C>T mutation in ASAH1 . Neuromuscular disorders : NMD 2015;25:222-4 .
• Guerrero-lopez r, orteGa-moreno l, GiralDez bG, alarcon-morcillo c, sancHez-martin G, nieto-barrera m, et al . Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene . Epilepsy research 2014;108:1274-8 .
• Ferlazzo e, canaFoGlia l, micHelucci r, GambarDella a, Gennaro e, pasini e, et al . Mild Lafora disease: cli- nical, neurophysiologic, and genetic findings . Epilepsia 2014;55:e129-33 .
Highlights
Institution: Instituto de Investigacion Sanitaria - Fundación Jiménez Díaz Contact: IIS-Fundación Jiménez Díaz · Avda . Reyes Católicos, 2 . 28040 Madrid Phone: (+34) 91 550 48 00 Ext 3251 · E .mail: joseserratosa@me .com
Unit 744 of CIBERER aims: a) to identify and characterize genes involved in sporadic or familial genetic epilepsies (fundamentally epileptic encephalopathies in childhood), b) to generate diagnostic and therapeutic tools that improve the quality of life of patients and family members affected by these diseases, and c) to achieve progress in the knowledge and treatment of Lafora disease by means of studying animal models .
In 2014 a selected group of patients has been analyzed by means of a multigene panel designed for the analysis of genes related to familial genetic epilepsies and epileptic encephalopathies in childhood in order to validate and transfer this diagnostic tool . Furthermore, we have described new mutations in the PRRT2 gene in the Spanish population in benign familial neonatal seizures and characterized one case of progressive myoclonus epilepsy with spinal muscular atrophy with ASAH1 mutation .
Unit 744 continued to lead the Spanish Group of Genetics of Childhood Epilepsies, GEGEI (www . gegei .es) . In this year, drugs have been tested in animal models of Lafora disease in order to prepare a clinical trial in patients and the corresponding clinical trial for studying the efficacy of Lacosamide in nocturnal attacks has continued, developing devices for quantifying the frequency of nocturnal epileptic fits in the patient’s home .
On an international level, we represented Spain in the “Collaborative Research Project (CRP) on Rare Epilepsy Syndromes” of EUROEPINOMICS (European Science Foundation) participating in the identification of new susceptibility genes in different types of rare epileptic syndromes .
Unit 744 provides the possibility of offering clinical and genetic studies to patients with rare epilepsies .
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