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Disorders of the Nervous Tissue

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Related Experiment Video

Updated: Jun 14, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Neurological channelopathies.

Dimitri M Kullmann1

  • 1Institute of Neurology, University College London, Queen Square, London WC1N3BG, United Kingdom. d.kullmann@ion.ucl.ac.uk

Annual Review of Neuroscience
|March 25, 2010
PubMed
Summary
This summary is machine-generated.

Inherited ion channel mutations cause nervous system disorders. Understanding these channelopathies requires knowing normal function, mutation effects, and compensatory changes, aided by animal models.

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • Inherited ion channel mutations impact the nervous system, causing episodic functional disturbances in the brain, spinal cord, peripheral nerves, or skeletal muscles.
  • Periods of normal neurological function often occur between these paroxysmal attacks.

Purpose of the Study:

  • To elucidate the mechanisms by which ion channel gene mutations lead to disease.
  • To understand the normal roles of ion channel subunits and the consequences of mutations on their function.
  • To investigate compensatory changes in ion channel activity contributing to neuronal excitability.

Main Methods:

  • Review of existing literature on inherited ion channelopathies.
  • Analysis of data from animal models of monogenic channelopathies.
  • Conceptual framework for understanding subtle ion channel dysfunction.

Main Results:

  • Knowledge of normal channel subunit localization and function is crucial.
  • Mutation effects on channel biogenesis and biophysical properties are key disease determinants.
  • Compensatory channel changes influence cell and circuit excitability.

Conclusions:

  • Animal models are valuable tools for studying monogenic channelopathies.
  • Future research should focus on the interplay of genetic and environmental factors in common paroxysmal disorders.
  • Understanding subtle ion channel derangements is essential for conditions like epilepsy and migraine.