Article

Mono and biallelic variants in<i>HCN2</i>cause severe neurodevelopmental disorders

2024-03-22

Abstract excerpt

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense variant has been linked to developmental and epileptic encephalopathy....

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fe1dd1e8-87d5-5a7d-9a3b-3d9ad3751104
DOI: 10.1101/2024.03.19.24303984

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Mono and biallelic variants in<i>HCN2</i>cause severe neurodevelopmental disordersDOI 10.1101/2024.03.19.24303984Read

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell ModelsSemantic proximity Read

HCN channelopathies: pathophysiology in genetic epilepsy and therapeutic implications.Semantic proximity Read

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsySemantic proximity Read

Augmented currents of an <i>HCN2</i> variant in patients with febrile seizure syndromesSemantic proximity Read

Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal ExcitabilitySemantic proximity Read

Analysis of epilepsy-associated variants in HCN3 - Functional implications and clinical observations.Semantic proximity Read

Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy.Semantic proximity Read

HCN ion channels and accessory proteins in epilepsy: genetic analysis of a large cohort of patients and review of the literatureSemantic proximity Read

<i>MDGA2</i> homozygous loss-of-function variants cause developmental and epileptic encephalopathySemantic proximity Read

Missense variants in the voltage sensing and pore domain of <i>KCNH5</i> cause neurodevelopmental phenotypes including epilepsySemantic proximity Read

Heterozygous variants in <i>KCNC2</i> cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterationsSemantic proximity Read

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.Semantic proximity Read