Key result
Molecular characterization of episodic neurological phenotypes is shedding light on their pathophysiologic features and will ultimately lead to better diagnosis and treatment.
Molecular characterization of channelopathies and episodic neurological phenotypes is important for understanding their pathophysiology and improving diagnosis and treatment.
May guide targeted molecular research in episodic neurology; leaves open translation to clinical practice without prospective validation.
Episodic neurological phenotypes make up an interesting and important group of diseases affecting humans. These include disorders of the skeletal and cardiac muscles, peripheral nerves, and brain. They range from episodic weakness syndromes to rare paroxysmal movement disorders. More common episodic phenomena include cardiac arrhythmias, epilepsy syndromes, and headache. Molecular characterization of these disorders is shedding light on their pathophysiologic features and will ultimately lead to better diagnosis and treatment of patients.
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Ptáček et al. (2004) conducted a review in Episodic neurological phenotypes. Molecular characterization of episodic neurological phenotypes is shedding light on their pathophysiologic features and will ultimately lead to better diagnosis and treatment.
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