Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Purpose: Biallelic CAD variants underlie CAD deficiency (or early infantile epileptic encephalopathy-50, [EIEE-50]), an error of pyrimidine de novo biosynthesis amenable to treatment via the uridine salvage pathway. We further define the genotype and phenotype with a focus on treatment.

Methods: Retrospective case series of 20 patients.

Seizure Freedom in Patients with Dravet Syndrome with Contraceptives: A Case Report with Two Patients.

Dravet syndrome is a rare and malignant epileptic syndrome that is typically resistant to antiepileptic drugs. There is a growing interest in the antiepileptic properties of neurosteroids. Especially progesterone is known to act as an anticonvulsive agent.

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

Purpose: PCDH19 mutations cause epilepsy and mental retardation limited to females (EFMR) or Dravet-like syndromes. Especially in the first years of life, epilepsy is known to be highly pharmacoresistant. The aim of our study was to evaluate the effectiveness of antiepileptic therapy in patients with PCDH19 mutations.