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Publications by Jurgen Del-Favero

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

American Journal of Human Genetics

English

Serotonin Transporter 5HTTLPR Polymorphism and Affective Disorders: No Evidence of Association in a Large European Multicenter Study

European Journal of Human Genetics

English

Related publications

Reduced Sodium Current in GABAergic Interneurons in a Mouse Model of Severe Myoclonic Epilepsy in Infancy

Nature Neuroscience

English

Reduced Sodium Current in Purkinje Neurons From NaV1.1 Mutant Mice: Implications for Ataxia in Severe Myoclonic Epilepsy in Infancy

Journal of Neuroscience

English

Benign Myoclonic Epilepsy in Infancy: Neuropsychological and Behavioural Outcome

Brain and Development

Developmental Neuroscience

English

Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia

Multidisciplinary

English

Severe Myoclonic Epilepsy in Infancy – Adult Phenotype With Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Molecular Syndromology

English

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

American Journal of Human Genetics

English

EFHC1: A Gene for Juvenile Myoclonic Epilepsy

Epilepsy and Seizure

English

Association Between SCN1A Gene Polymorphisms and Drug Resistant Epilepsy in Pediatric Patients

Seizure : the journal of the British Epilepsy Association

English

Juvenile Myoclonic Epilepsy

English