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Publications by Ulrich Stephani
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
American Journal of Human Genetics
Genetics
Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens
JAMA Neurology
Neurology
Neuronal Networks in Epileptic Encephalopathies With CSWS
Epilepsia
Neurology
Pitfalls in Genetic Testing: The Story of missedSCN1Amutations
Molecular genetics & genomic medicine
Genetics
Molecular Biology
MEG-EEG Fusion by Kalman Filtering Within a Source Analysis Framework
A Novel Recessive Hyperekplexia Allele GLRA1 (S231R): Genotyping by MALDI-TOF Mass Spectrometry and Functional Characterisation as a Determinant of Cellular Glycine Receptor Trafficking
European Journal of Human Genetics
Genetics
Epilepsie Im Kindesalter: Wann Kann Die Antiepileptische Therapie Abgesetzt Werden?
Zeitschrift fur Epileptologie
Child Health
Neurology
Pediatrics
Perinatology
