Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation

Autor:	V. Scarano, Giuseppe De Michele, Paolo Gasparini, Lucio Santoro, Giovanni Coppola, Anna Perretti, Filippo M. Santorelli, Alessandro Filla, Sandro Banfi, Adamo Pio d'Adamo, Francesco Saccà, Chiara Criscuolo, Pasquale Striano, Anna E. Lehesjoki, Salvatore Striano, Vincenzo Brescia Morra, Fabrizio Barbieri
Přispěvatelé:	G., Coppola, C., Criscuolo, Michele, G. D., Striano, Salvatore, F., Barbieri, P., Striano, A., Perretti, L., Santoro, V. B., Morra, Sacca', Francesco, V., Scarano, A. P., D'Adamo, S., Banfi, P., Gasparini, F. M., Santorelli, A. E., Lehesjoki, Filla, Alessandro, Coppola, G, Criscuolo, C, De Michele, G, Striano, S, Barbieri, F, Striano, P, Perretti, A, Santoro, L, Brescia Morra, V, Sacca, F, Scarano, V, D'Adamo, Ap, Banfi, Sandro, Gasparini, P, Santorelli, Fm, Lehesjoki, Ae, Filla, A., DE MICHELE, Giuseppe, Barbieri, Fabrizio, Perretti, ANNA CARMELA AGNESE, Santoro, Lucio, BRESCIA MORRA, Vincenzo, Banfi, S, DE MICHELE, G, BRESCIA MORRA, V, D'Adamo, ADAMO PIO, Gasparini, Paolo
Rok vydání:	2005
Předmět:	Pediatrics Neurology Ataxia: pathology DNA Mutational Analysis Mental Retardation: complications Neurological disorder pathology [Ataxia] Progressive: genetics Epilepsy Mental Retardation Ataxia: genetics genetics Age of Onset Mitochondrial: genetics genetic [Mitochondrial] Progressive: pathology Adult Ataxia Ataxia: complications DNA Mitochondrial Family Health Female Humans Magnetic Resonance Imaging Magnetic Resonance Imaging: methods Mental Retardation: genetics Mental Retardation: pathology Myoclonic Epilepsies Progressive Progressive: complications Point Mutation pathology [Progressive] Adult Age of Onset Ataxia complications/genetics/pathology DNA Mutational Analysis DNA genetics Family Health Female Humans Intellectual Disability complications/genetics/pathology Magnetic Resonance Imaging methods Myoclonic Epilepsies complications/genetics/pathology Point Mutation medicine.symptom Human congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty complication [Ataxia] Myoclonic Epilepsie complication [Progressive] Progressive myoclonus epilepsy DNA Mitochondrial methods DNA Mutational Analysi pathology [Mental Retardation] Intellectual Disability medicine Psychiatry complication [Mental Retardation] genetic [Progressive] business.industry complications/genetics/pathology genetic [Ataxia] medicine.disease Myoclonic Epilepsies Progressive Developmental disorder method [Magnetic Resonance Imaging] Neurology (clinical) genetic [Mental Retardation] Age of onset business methods Myoclonic Epilepsie Myoclonus
Popis:	We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht–Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.
Databáze:	OpenAIRE
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