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Publications by J. Fahrbach

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

Molecular Syndromology

English

Related publications

Benign Myoclonic Epilepsy in Infancy: Neuropsychological and Behavioural Outcome

Brain and Development

Developmental Neuroscience

English

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

American Journal of Human Genetics

English

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

Nature Neuroscience

English

Familial Adult Onset Myoclonic Epilepsy Associated With Migraine

Seizure : the journal of the British Epilepsy Association

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

Familial Adult Myoclonic Epilepsy: A New Expansion Repeats Disorder

Seizure : the journal of the British Epilepsy Association

English

Case Report of Management Problem of Juvenile Myoclonic Epilepsy

Case Reports in Clinical Medicine

English

UBR5Gene Mutation Is Associated With Familial Adult Myoclonic Epilepsy in a Japanese Family

English

Juvenile Myoclonic Epilepsy

English