4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy

Sci Transl Med. 2021 Sep;13(609):eaaz4957. doi: 10.1126/scitranslmed.aaz4957. Epub 2021 Sep 1.

Abstract

Developmental and epileptic encephalopathies are devastating disorders characterized by epilepsy, intellectual disability, and other neuropsychiatric symptoms, for which available treatments are largely ineffective. Following a precision medicine approach, we show for KCNA2-encephalopathy that the K+ channel blocker 4-aminopyridine can antagonize gain-of-function defects caused by variants in the KV1.2 subunit in vitro, by reducing current amplitudes and negative shifts of steady-state activation and increasing the firing rate of transfected neurons. In n-of-1 trials carried out in nine different centers, 9 of 11 patients carrying such variants benefitted from treatment with 4-aminopyridine. All six patients experiencing daily absence, myoclonic, or atonic seizures became seizure-free (except some remaining provoked seizures). Two of six patients experiencing generalized tonic-clonic seizures showed marked improvement, three showed no effect, and one worsening. Nine patients showed improved gait, ataxia, alertness, cognition, or speech. 4-Aminopyridine was well tolerated up to 2.6 mg/kg per day. We suggest 4-aminopyridine as a promising tailored treatment in KCNA2-(gain-of-function)–encephalopathy and provide an online tool assisting physicians to select patients with gain-of-function mutations suited to this treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 4-Aminopyridine / therapeutic use
  • Brain Diseases*
  • Epilepsy*
  • Gain of Function Mutation
  • Humans
  • Kv1.2 Potassium Channel / genetics
  • Mutation

Substances

  • KCNA2 protein, human
  • Kv1.2 Potassium Channel
  • 4-Aminopyridine