PIGN and epilepsy syndrome: In case 12, 18q21.33 deletion contain the exon 16–31 of PIGN, homozygous mutations in this gene lead to multiple congenital abnormalities-hypokalemia-epilepsy syndrome, the clinical phenotype is lack of motor development, seizures, multiple malformations and various congenital abnormalities involving the heart, urinary and gastrointestinal systems.