Furthermore, a study on genetic epilepsy with hay febrile seizures plus (Dravet syndrome) has reported a SCN1A missense variant in a large Jewish family (14/17 cases) with epilepsy syndrome at both extremes (low and high) [15], and a study on thyroid dysgenesis with congenital hypothyroidism found a familial PAX8 variant associated with EP [44]. Here, PAX8 is linked to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.