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Article

[Variability of the clinical expression of KCNB1 encephalopathy].

Revista de neurologia - 16 Nov 2021

Púa-Torrejón R C, González-Alguacil E, Soto-Insuga V, Moreno-Cantero T, Ortiz-Cabrera N V, Pérez-Poyato M S, Ruiz Falcó-Rojas M L, García-Peñas J J

Abstract excerpt

INTRODUCTION: The KCNB1 gene encodes a voltage-dependent potassium channel that regulates transmembrane currents in pyramidal neurons. Heterozygous variants have recently been associated with early-onset epileptic encephalopathies and intellectual disability, but their clinical characterisation has not yet been fully defined. AIM: To describe the clinical spectrum associated with variants of KCNB1 in paediatric...

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PMID: 34877642
DOI: 10.33588/rn.7312.2021267

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