Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Interestingly, two of the candidate genes, namely PDE2A and PIK3C2B , were reported with nominally significant P -values for the association with NAFE in the Epi25 collaborative, the largest WES study in epilepsy to date. 38 While we did not find any additional URV in PDE2A , two heterozygous PIK3C2B URVs were identified in FE cases: a stop-gain p.Q1533* variant and a missense p.I1544 M variant in the C2 do

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