Expanding the phenotypic spectrum of kcnk4: from syndromic neurodevelopmental disorder to rolandic epilepsy

HIGHLIGHTS

• who: ufeffHong-Junufeff ufeffYanufeff from the The University of Iowa, United States have published the article: Expanding the phenotypic spectrum of ufeffKCNK4ufeff: From syndromic neurodevelopmental disorder to rolandic epilepsy, in the Journal: (JOURNAL)
• what: The authors reported the first variant that is associated with Rolandic epilepsy, expanding the phenotypic spectrum of KCNK4.

SUMMARY

It encodes the potassium two pore domain channels subfamily K member 4 (K2P4.1), a lipid-and mechano-sensitive K+ ion_channel with 393 amino_acids. Previously, only two KCNK4 variants were identified to be associated with human disease (Bauer . . .

 



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