The progressive myoclonus epilepsy (PME) is a rare group of clinically and genetically heterogeneous disorders characterized by myoclonus, drug refractory epilepsy, and neurological deterioration. Here, we report a three-year-old female patient with neuroregression after a period of normal development and uncontrollable myoclonic seizures, which fulfill the criteria of PME. Next-generation sequencing revealed a novel homozygous mutation of variant c.173G>C in exon 2 of the KCDT7 (potassium channel tetramerization domain containing protein 7) gene that was compatible with the diagnosis of progressive myoclonic epilepsy 3 (PME3) with or without intracellular inclusions. This is a rare report of KCTD7 mutations causing PME in the Indian population. Our findings supported the important role of KCTD7 in PME and broadened the mutation spectrum.

Background: Gratification phenomena (GP) are self-stimulatory behavior and also called as infantile masturbation. This phenomenon is especially seen in early childhood. GP is often misdiagnosed as epilepsy, dystonia, urinary tract infection or infantile colic resulting in numerous investigations and treatment because of variable behaviors during this event.Methods: This study aimed to describe the features of GP, so that clinicians can better recognize this condition, to prevent unnecessary evaluations, and provide appropriate guidance to parents. This study is a prospective observational study, conducted in patients with GP between March 2019 and November 2020. GP was diagnosed on the basis of history, eyewitness account and video recording of the eventResults: During the study period, 19 children were diagnosed with GP. Out of 19, 17(89.4%) children were females.  The mean age at onset was 17months (range 5-36months). The mean age at diagnosis was 20 months (range 8-47months). The mean frequency of events was 4/day (range 1-12/day). A typical GP was seen in 12 of 19 (63.15%) children. At the time of referral, 31% of children were diagnosed with epilepsy and 26% of children were diagnosed with infantile colic. During follow up period, GP was subsided within 4-12 months after the initial visit.Conclusions: A GP, otherwise called infantile masturbation, is an important consideration in the differential diagnosis of epilepsy and other paroxysmal events in early childhood. A detailed history and video recording of events often prevents unnecessary investigations and treatments.