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Publications by Janine Altmüller

Association of a Synonymous SCN1B Variant Affecting Splicing Efficiency With Benign Familial Infantile Epilepsy (BFIE)

European Journal of Paediatric Neurology

English

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Benign Familial Infantile Epilepsy

English

Decreased Network Efficiency in Benign Epilepsy With Centrotemporal Spikes

Nuclear Medicine

English

Benign Infantile Epilepsy Mimicking Reflex Anoxic Seizures in an Infant With PRRT2 Gene Mutation

Indian Journal of Pediatrics

English

A Common Variant inMTHFD1Lis Associated With Neural Tube Defects and mRNA Splicing Efficiency

English

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

American Journal of Human Genetics

English

Logopenic Syndrome and Corticobasal Dysfunction in a “Benign” Type 3 Familial Cortical Myoclonic Tremor With Epilepsy

Seizure : the journal of the British Epilepsy Association

English

Familial Hypocalciuric Hypercalcaemia--Familial Benign Hypercalcaemia: A Review.

Postgraduate Medical Journal

English

Benign Familial Tremor Treated With Primidone.

English

Familial Infantile Bilateral Striatal Necrosis

English