Fig. 1.

Clinical diagnosis of SeSAME family members. a Genogram of family with SeSAME syndrome with no electrolyte imbalance. The generations are marked in roman letters (I to V) and individuals in each generation are given running numbers. b All affected siblings showed dysmorphic facial features. c T2W image of IV.2 showing enlarged and bilateral basal ganglia (blue arrows). d T1 MPRAGE of IV.2 showing bilateral cerebellar atrophy (orange arrows). e EEG of V.1 showing generalized sharp and slow-wave discharges predominantly in frontocentral region f EEG of V.2 showing generalized poly spike discharges predominantly in fronto–temporal region