Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome

Completed

• Conditions: Dravet Syndrome
• Interventions: Device: measure of neuronal excitability

• Registration Number: NCT02896608
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-10-29
• Study First Submitted: 2016-08-23
• Study First Submitted QC: 2016-09-06
• Study First Posted: 2016-09-12
• Primary Completion: 2019-10-16
• Study Completion: 2019-10-16
• Status Verified: 2023-02
• Last Update Submitted: 2023-02-14
• Last Update Posted: 2023-02-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 92

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Dravet syndrome - HCN1 channel mutation	measure of neuronal excitability	early infantile epileptic encephalopathy with HCN1 channel mutation
control with epilepsy	measure of neuronal excitability	-
control without epilepsy	measure of neuronal excitability	-

Primary Outcome Measures

Name	Time	Method
hyperpolarizing electrotonus	baseline
hyperpolarizing threshold current	baseline

Trial Locations

Locations (1)

Fondation Ophtalmologique Adolphe de Rothschild; 🇫🇷 Paris, France