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Publications by Holger Lerche

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics

English

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias

American Journal of Human Genetics

English

Activity of NaV1.2 Promotes Neurodegeneration in an Animal Model of Multiple Sclerosis

English

Clinical Spectrum of STX1B-related Epileptic Disorders

English

KCNC1 ‐related Disorders: New De Novo Variants Expand the Phenotypic Spectrum

Annals of Clinical and Translational Neurology

English

Development of a Rapid Functional Assay That Predicts GLUT1 Disease Severity

Neurology: Genetics

English

Obituary for Prof. Dr. Dr. h.c. Dipl. Ing. Frank Lehmann-Horn

Journal of Neurology

English

Episodic Itch in a Case of Spinal Glioma

English

A Genome-Wide Association Study of Sodium Levels and Drug Metabolism in an Epilepsy Cohort Treated With Carbamazepine and Oxcarbazepine

English

Personalisierte Diagnostik Und Therapie in Der Neurologie

English