Expertise and current research performed: The Fundación Jiménez Díaz is a University hospital involved in clinical, teaching and research activities. Expertise involves all areas of clinical medicine, specifically, neurology, internal medicine, cardiology, rheumatology, allergy, genetics, and nephrology. The specific activities of the Department of Neurology involve the care of acute and chronic neurological patients. Research activities are centered in movement disorders, epilepsy and dementia. Research activities are centered in movement disorders, epilepsy and dementia. The group is involved in the research of the clinical and molecular genetics of the epilepsies. The group is involved in the genetics of Lafora disease, a rare form of progressive myoclonus epilepsy, the genetics of the partial and generalized epilepsies. In 1995 we mapped the gene for Lafora disease to chromosome 6q and in 1999 we cloned the corresponding gene (EPM2A).

Facilities/Equipment: The Department of Neurology is equipped with: Automatic DNA extractor, sequencing facilities (shared equipment), DHPLC (shared equipment), genotyping equipment, PCR machines, other equipment (centrifuges, shakers, incubators, electrophoresis analysis equipment).

Personnel involved in the project

Principal investigator: Jose Serratosa (M). MD, PHD. Specialist in Neurology. Doctorate degree in medicine. Epilepsy fellowship at the University of California Los Angeles. Associate chief, Neurology Department, Fundación Jiménez Díaz. Associate Professor, Department of Medicine, Autónoma University of Madrid. Working in the field since 1989. Research interests are: genetics of the epilepsies, semiology of epileptic seizures, epilepsy syndromes, antiepileptic drugs. Intensively involved in the discovery of a locus for progressive myoclonus epilepsy of Lafora in chromosome 6q and of the corresponding gene.

Pilar Gómez-Garre (F). PhD. Doctorate degree in molecular biology. Postdoctoral research position. Neurology Department, Fundación Jiménez Díaz. Working in the field since 1996. Research interests are: genetics of neurological diseases, genetics of the epilepsies. Anne Gómez-Caicoya. (F). MD, PhD. Specialist in Neurology. Doctorate degree in medicine. Fellowship in Epilepsy, Neurology Department, Fundación Jiménez Díaz. Working in the field since 2004. Research interests are: epilepsy surgery, semiology of epileptic seizures, genetics of the epilepsies. José Morales (M). PhD student. Biochemical Degree. Research interests: genetics of the epilepsies. Working in the field since 2001. Cristina Gómez-Abad. (F). Biochemical Degree. Research interests: genetics of progressive myoclonus epilepsy of Lafora. Working in the field since 2002. Carmen Almaraz Pro (F). Lab technician. In charge of DNA extraction and preparation of samples for sequencing.

Recent relevant publications/patents

1.        Gomez-Garre P, Seijo M, Gutierrez-Delicado E, Castro del Rio M, de la Torre C, Gomez-Abad C, Morales-Corraliza J, Puig M, Serratosa JM. (2005). Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. J Med Genet (in press).

2.        Gomez-Abad C, Gomez-Garre P, Gutierrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Cordoba S, Serratosa JM. (2005). Lafora disease due to EPM2B mutations: a clinical and genetic study. Neurology, 64, 982-986.

3.        Berkovic SF, Serratosa JM, Phillips HA, Xiong L, Andermann E, Diaz-Otero F, Gomez-Garre P, Martin M, Fernandez-Bullido Y, Andermann F, Lopes-Cendes I, Dubeau F, Desbiens R, Scheffer IE, Wallace RH, Mulley JC, Pandolfo M. (2004). Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia, 45, 1054-1060.

4.        Gutierrez-Delicado E, Serratosa JM. (2004). Genetics of the epilepsies. Curr Opin Neurol, 17, 147-153.