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Publications by Erik-Jan Kamsteeg
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
American Journal of Human Genetics
Genetics
Clinical Exome Sequencing for Cerebellar Ataxia and Spastic Paraplegia Uncovers Novel Gene–disease Associations and Unanticipated Rare Disorders
European Journal of Human Genetics
Genetics
De Novo BK Channel Variant Causes Epilepsy by Affecting Voltage Gating but Not Ca2+ Sensitivity
European Journal of Human Genetics
Genetics
Loss of UGP2 in Brain Leads to a Severe Epileptic Encephalopathy, Emphasizing That Bi-Allelic Isoform Specific Start-Loss Mutations of Essential Genes Can Cause Genetic Diseases
Development of Lithium-Induced Nephrogenic Diabetes Insipidus Is Dissociated From Adenylyl Cyclase Activity
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
At Physiological Expression Levels the Kidd Blood Group/Urea Transporter Protein Is Not a Water Channel
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
