SNP Shot: Genomic Insights

Pyridoxine-dependent epilepsy is a disorder characterized by seizures that start in infancy or, less commonly, even before birth. Individuals affected often experience extended seizures, known as status epilepticus, which can last for several minutes. These seizures manifest as muscle stiffness, convulsions, and loss of consciousness (tonic-clonic seizures). Other signs of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) shortly after birth, and increased irritability preceding a seizure. In rare cases, seizures may not appear until a child is between 1 and 3 years old.

Standard anticonvulsant medications used to manage seizures are generally ineffective for individuals with pyridoxine-dependent epilepsy. The primary treatment involves high daily doses of pyridoxine (vitamin B6), a nutrient found in food. Without treatment, this condition can lead to serious brain damage (encephalopathy). Although pyridoxine can control the seizures, individuals may still experience neurological complications, such as developmental delays and learning disabilities.

Inheritance:

Pyridoxine-dependent epilepsy follows an autosomal recessive inheritance pattern. This means that both copies of the relevant gene in a person's cells must have mutations for the condition to develop. Both parents of someone with an autosomal recessive condition carry one copy of the mutated gene, but they usually don't exhibit any symptoms of the disorder themselves.