Epilepsy, female-restricted, with mental retardation (EFMR), also known as Juberg-Hellman Syndrome, was first reported in 1971. This syndrome is characterized by a range of mental retardation, seizures, convulsions, and intellectual disabilities that begin in infancy. The frequency of seizures often significantly decreases by the age of 2–3 years; however, mental retardation, intellectual function, and cognitive development remain notably impaired. Interestingly, it has been observed that this condition merely affects women, while men remain unaffected (Juberg and Hellman 1971; Lindhout et al. 2008). Moreover, EFMR shares phenotypic similarities with other syndromes such as Rett and Dravet syndromes, discriminating them from each other is of paramount importance.