Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome

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


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


Dravet Syndrome


measure of neuronal excitability


Fondation Ophtalmologique Adolphe de Rothschild




Fondation Ophtalmologique Adolphe de Rothschild

Results (where available)

View Results


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

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Medical and Biotech [MESH] Definitions

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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.

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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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Epilepsy is defined as a disorder of brain function characterized by recurrent seizures that have a sudden onset.  (Oxford Medical Dictionary).  A seizure is caused by a sudden burst of excess electrical activity in the brain, causing a tempora...

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