SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. [electronic resource]
Producer: 20101108Description: 1454-8 p. digitalISSN:- 1526-632X
- Age Factors
- Animals
- Animals, Newborn
- Ataxia -- complications
- Cell Line, Transformed
- Cerebellum -- growth & development
- Child
- Disease Progression
- Electroencephalography -- methods
- Epilepsy -- complications
- Gene Expression Regulation, Developmental
- Genome-Wide Association Study -- methods
- Humans
- Magnetic Resonance Imaging
- Membrane Potentials -- genetics
- Mice
- Mutation -- genetics
- Myoclonus -- complications
- NAV1.2 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins -- genetics
- Neurons -- metabolism
- Pain -- complications
- Patch-Clamp Techniques -- methods
- Sodium Channels -- genetics
- Transfection -- methods
- Video Recording -- methods
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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