For SCN1A for example, a microdeletion in the 5’-promoter region was found in patients with Dravet syndrome (Nakayama et al., 2010), and another heterozygous mutation in the promoter region (h1u-1962 T >G) was identified in a patient with partial epilepsy and febrile seizures (Gao et al., 2017). This evidence concerns the gene SCN1A and encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy.