<scp>PI4K2A</scp> deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy - Concepedia

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<scp>PI4K2A</scp> deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

DOI Full Paper Access

23

Citations

30

References

2022

Year

Hormos Salimi Dafsari, Joshua G. Pemberton, Elizabeth Ferrer, Tony Yammine, Chantal Farra, Mohammad Hasan Mohammadi, Ehsan Ghayoor Karimiani, Narges Hashemi, Mirna Souaid, Sandra Sabbagh,

Annals of Clinical and Translational Neurology

Abstract

Our study establishes the genotype-phenotype spectrum of PI4K-associated NDD and highlights several commonalities with other innate errors of intracellular trafficking.

References

	Year	Citations

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