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Genetics

Expanding the spectrum of neurological disorders associated with PRRT2 mutations

Nature Reviews Neurology volume 8, page 657 (2012)Cite this article

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Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene have been implicated in a number of childhood-onset paroxysmal disorders, including paroxysmal kinesigenic dyskinesia (PKD), infantile convulsions with PKD (PKD/IC; formerly known as infantile convulsions and choreoathetosis), and benign familial infantile epilepsy (BFIE). Five papers recently published in Neurology further expand the phenotypic spectrum of PRRT2 mutations, to encompass conditions such as hemiplegic migraine, episodic ataxia and febrile seizures.

PRRT2 is a transmembrane protein that is capable of binding to synaptosomal-associated protein 25 (SNAP25). The function of PRRT2 is poorly understood, although its interaction with SNAP25 suggests a role in synaptic vesicle docking and exocytosis. Most of the pathological mutations in the PRRT2 gene that have been discovered to date cause truncation of the protein, leading to loss of function.

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ORIGINAL RESEARCH PAPERS

  1. Marini, C. et al. PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. Neurology doi:10.1212/WNL.0b013e3182752ca2

  2. Gardiner, A. R. et al. PRRT2 gene mutations: from paroxysmal dyskinesias to episodic ataxia and hemiplegic migraine. Neurology doi:10.1212/WNL.0b013e3182752c5a

  3. Cloarec, R. et al. PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine. Neurology doi:10.1212/WNL.0b013e3182752c46

  4. Scheffer, I. E. et al. PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. Neurology doi:10.1212/WNL.0b013e3182752c6c

  5. Riant, F. et al. PRRT2 mutations cause hemiplegic migraine. Neurology doi:10.1212/WNL.0b013e3182752cb8

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  1. Heather Wood
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Wood, H. Expanding the spectrum of neurological disorders associated with PRRT2 mutations. Nat Rev Neurol 8, 657 (2012). https://doi.org/10.1038/nrneurol.2012.240

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