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Publications by Roberta Epifanio
Novel Epilepsy Phenotype Associated to a Known SCN8A Mutation
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Visual Function in Infants With West Syndrome: Correlation With EEG Patterns
Epilepsia
Neurology
Related publications
iPSC-Derived Neurons Harboring a Known Epilepsy Mutation Provide a ‘Disease-In-A-Dish’ Capability That Displays Established and Novel Epileptic Phenotypes
Biophysical Journal
Biophysics
A Novel Mutation in the TM6 Domain of GABBR2 Leads to a Rett-Like Phenotype
Annals of Neurology
Neurology
A Novel Mutation (LEU396ARG) in OPA1 Is Associated With a Severe Phenotype in a Large Dominant Optic Atrophy Pedigree
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
Progressive Myoclonic Epilepsy Type 8 Due to CERS1 Deficiency: A Novel Mutation With Prominent Ataxia
Movement Disorders Clinical Practice
Neurology
New Ocular Phenotype Associated With a Mutation in the PAX2 Gene
Eye
Medicine
Arts
Sensory Systems
Ophthalmology
Humanities
“Breath Holding Spells” in a Child With SCN8A-related Epilepsy: Expanding the Clinical Spectrum
Seizure : the journal of the British Epilepsy Association
Medicine
Neurology
Atypical Rett Syndrome and Intractable Epilepsy With Novel GRIN2B Mutation
Child Neurology Open
Heterozygous Versus Homozygous Phenotype Caused by the Same Mc4r Mutation: Novel Mutation Affecting a Large Consanguineous Kindred
BMC Medical Genetics
Genetics
Genotype–phenotype Correlation in BRCA1/2 Mutation-Associated Pancreatic Cancer
British Journal of Cancer
Cancer Research
Oncology
