A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1

Juan Darío Ortigoza-Escobar1,2,3, Laura Marti-Sánchez4, Loreto Martorell2,4

  • 1Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona, Barcelona, Spain.

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