Comment: Challenges in defining the clinical spectrum of neurogenetic disorders
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Diagnostic parsimony and a focus on single genes may encourage overinterpretation of the clinical import of specific genetic variants. With conditions as complex and common as migraine, there are additional confounding factors: clinical and genetic heterogeneity and incomplete penetrance. Pelzer et al.1 re-examined a family with both hemiplegic migraine (FHM) and benign familial infantile seizures (BFIS) previously attributed to a mutation in the FHM2 gene ATP1A2.2 The recent discovery of mutations in the proline-rich transmembrane protein 2 (PRRT2) gene primarily in familial paroxysmal kinesigenic dyskinesia but also in other childhood-onset episodic disorders (including FHM and BFIS) prompted the authors to re-examine this family to uncover a new mutation in PRRT2.
Footnotes
Study funding: No targeted funding reported.
Disclosure: J.C. Jen receives funding support from the FDA and serves on the editorial boards of Experimental Brain Research and Frontiers in Neurology.
- © 2014 American Academy of Neurology
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