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Epileptic Disorders : International Epilepsy Journal with Videotape|September 14, 2016
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesisEdoardo Ferlazzo, Pasquale Striano, Domenico Italiano, et al.Human Mutation|March 26, 2013
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancyMathieu Milh, Antonio Falace, Nathalie Villeneuve, et al.Epilepsia|May 14, 2013
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotypeLaura Licchetta, Tommaso Pippucci, Francesca Bisulli, et al.Annals of Neurology|May 1, 2014
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsyNicola Vanni, Floriana Fruscione, Edoardo Ferlazzo, et al.American Journal of Human Genetics|August 24, 2010
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsyAntonio Falace, Fabia Filipello, Veronica La Padula, et al.Epilepsia|January 31, 2013
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significanceFederico Zara, Nicola Specchio, Pasquale Striano, et al.Pageof 1