CFTR and Epileptic encephalopathy: Of note, WES analysis also revealed two variants in CFTR (*602421): c.489 + 3A > G (rs377729736; CS002122), and c.2991G > C; p. Leu997Phe (rs1800111; CM920171) but were not considered to be related to the developmental and epileptic encephalopathy phenotypes observed in the patient.