Epilepsy Advanced Sequencing and CNV Evaluation

Imported from GeneReviews

Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE-ALDH7A1. Intellectual disability is common, particularly in classic PDE-ALDH7A1. Classic PDE-ALDH7A1. Untreated seizures begin within the first weeks to months of life. Dramatic presentations of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Electrographic seizures can occur without clinical correlates. Atypical PDE-ALDH7A1. Findings in untreated individuals can include late-onset seizures beginning between late infancy and age three years, seizures that initially respond to anti-seizure medication and then become intractable, seizures during early life that do not respond to pyridoxine but are subsequently controlled with pyridoxine several months later, and prolonged seizure-free intervals (≤5 months) that occur after discontinuation of pyridoxine.

Imported from Human Phenotype Ontology (HPO)

• Fetal distress
• Hydrocephalus
• Hypotonia
• Status epilepticus
• Strabismus
• Clonic seizure
• Delayed speech and language development
• Bilateral tonic-clonic seizure
• Global developmental delay
• Prenatal movement abnormality
• EEG with burst suppression
• Intellectual disability
• Generalized myoclonic seizure
• Neonatal respiratory distress
• Elevated circulating alpha-aminoadipic semialdehyde concentration