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Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome

2016-09-12 18:38:22 | BioPortfolio

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.

Study Design

Time Perspective: Cross-Sectional

Conditions

Dravet Syndrome

Intervention

measure of neuronal excitability

Location

Fondation Ophtalmologique Adolphe de Rothschild
Paris
France
75019

Status

Recruiting

Source

Fondation Ophtalmologique Adolphe de Rothschild

Results (where available)

View Results

Links

Published on BioPortfolio: 2016-09-12T18:38:22-0400

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Medical and Biotech [MESH] Definitions

A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.

Measurable changes in activities in the CEREBRAL CORTEX upon a stimulation. A change in cortical excitability as measured by various techniques (e.g., TRANSCRANIAL MAGNETIC STIMULATION) is associated with brain disorders.

The shortest duration of an electrical stimulus where the threshold amplitude is twice the rheobase - the minimum required for eliciting an ACTION POTENTIAL at any time period. It is a measure of the excitability of nerve or muscle tissue, and is characteristic of types and/or condition of the nerve or muscle cells in the tissue.

A voltage-gated sodium channel subtype that is predominantly expressed in the CENTRAL NERVOUS SYSTEM. Defects in the SCN1A gene which codes for the alpha subunit of this sodium channel are associated with DRAVET SYNDROME, generalized epilepsy with febrile seizures plus, type 2 (GEFS+2), and familial hemiplegic migraine type 3.

A calbindin protein that is differentially expressed in distinct populations of NEURONS throughout the vertebrate and invertebrate NERVOUS SYSTEM, and modulates intrinsic neuronal excitability and influences LONG-TERM POTENTIATION. It is also found in LUNG, TESTIS, OVARY, KIDNEY, and BREAST, and is expressed in many tumor types found in these tissues. It is often used as an immunohistochemical marker for MESOTHELIOMA.

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