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Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Verdura, Edgard; Fons, Carme; Schlüter, Agatha; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; Castellano Orozco, Antonio Gonzalo; Pujol, Aurora (BMJ Publishing Group, 2020)Background: Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with ...