Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome

This study addresses the changes in the axonal excitability parameters. It will compare these changes in patients with early infantile epileptic encephalopathy with HCN1 channel mutation and in control patients, with and without epilepsy.

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Key information

Conditions

Dravet Syndrome Brain Diseases Central Nervous System Diseases Epilepsies, Myoclonic Epilepsy Epilepsy, Generalized Epileptic Syndromes Nervous System Diseases

Age range

15 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Fondation Ophtalmologique Adolphe de Rothschild

Paris, 75019, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

early infantile epileptic encephalopathy with HCN1 channel mutation
control patients with no neurologic pathology (age, gender and body temperature matched)
epileptic patients (age, gender and body temperature matched)

Exclusion criteria

pregnant or breast feeding patient

Treatment and study plan

measure of neuronal excitability

Device

Primary outcomes

hyperpolarizing electrotonus

Time frame: baseline
hyperpolarizing threshold current

Time frame: baseline

Sponsors and collaborators

Lead sponsor

Fondation Ophtalmologique Adolphe de Rothschild

Network

Registry information

Official study title

Neuronal Excitability of Hyperpolarization-activated Cyclic Nucleotide-gated (HCN1) Channel Mutations in Dravet Syndrome

Acronym: EXCIDRAH

Important dates

Study start: 2015
Primary completion: 2019
Study completion: 2019
First posted: Sep 12, 2016
Registry last updated: Feb 15, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed