Associated Papers
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC et al.
International Journal of Molecular Sciences, 2020
De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.
Rogers A et al.
American Journal of Medical Genetics. Part A, 2018
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