Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

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Proline Scan of the hERG Channel S6 Helix Reveals the Location of the Intracellular Pore Gate

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De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome

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Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

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KV10.1 opposes activity-dependent increase in Ca2+influx into the presynaptic terminal of the parallel fibre-Purkinje cell synapse

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A framework for the interpretation of de novo mutation in human disease

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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

(2014) Cas Simons et al.   NATURE GENETICS

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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

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Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

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Clinical and genetic study of two patients with Zimmermann–Laband syndrome and literature review

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Behavioural and functional characterization of Kv10.1 (Eag1) knockout mice

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The V-ATPase membrane domain is a sensor of granular pH that controls the exocytotic machinery

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BKCaand hEag1 Channels Regulate Cell Proliferation and Differentiation in Human Bone Marrow-Derived Mesenchymal Stem Cells

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Multistate Structural Modeling and Voltage-Clamp Analysis of Epilepsy/Autism Mutation Kv10.2-R327H Demonstrate the Role of This Residue in Stabilizing the Channel Closed State

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Rotation mechanism of Enterococcus hirae V1-ATPase based on asymmetric crystal structures

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Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

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Cantú Syndrome Is Caused by Mutations in ABCC9

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Physical and functional interaction of KV10.1 with Rabaptin-5 impacts ion channel trafficking

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Tuning of EAG K+channel inactivation: Molecular determinants of amplification by mutations and a small molecule

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Dominant missense mutations in ABCC9 cause Cantú syndrome

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Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome

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Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome

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Lysosomal Acidification Mechanisms

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Rapid Internalization of the Oncogenic K+ Channel KV10.1

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Temple-Baraitser syndrome: A rare and possibly unrecognized condition

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A cation counterflux supports lysosomal acidification

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Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders

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Fast and accurate short read alignment with Burrows-Wheeler transform

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No mutation in genes of the WNT signaling pathway in patients with Zimmermann–Laband syndrome

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hERG Gating Microdomains Defined by S6 Mutagenesis and Molecular Modeling

(2008) Sarah L. Wynia-Smith et al.   JOURNAL OF GENERAL PHYSIOLOGY

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction

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Eag1 potassium channel immunohistochemistry in the CNS of adult rat and selected regions of human brain

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