Mutations in the ATP1A3 gene (which encodes the main α subunit in neuronal Na+/K+-
ATPases) cause various neurological syndromes including
alternating hemiplegia of childhood. This rare disorder is characterized by paroxysmal episodes of
hemiplegia,
dystonia, oculomotor abnormalities, and occasionally developmental regression. Approximately 50% of
alternating hemiplegia of childhood patients also have
epilepsy, which is either focal or generalized.
Seizures are often
drug resistant. We report a 10-year-old girl with the D801N ATP1A3 mutation and
alternating hemiplegia of childhood who manifested with
drug-resistant
focal seizures as an infant and throughout childhood. At the age of about10.5 years, her
epilepsy evolved into electrical
status epilepticus in sleep with generalized discharges. These changes coincided with developmental regression consistent with epileptic
encephalopathy. Additionally, MRI and MR spectroscopy showed new cortical
atrophy and markedly depressed
N-acetyl aspartate peaks compared to previous normal studies. Electrical
status epilepticus in sleep resolved after medication adjustments. She, now, only four months after her diagnosis of electrical
status epilepticus in sleep, has regained most of the skills that were lost only a few months earlier. Our observations document that
alternating hemiplegia of childhood can result in the above-described unique features; particularly, progression of
focal epilepsy to electrical
status epilepticus in sleep with generalized features and reversible epileptic
encephalopathy.