A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compared the functional consequences of three heterozygous de novo variants (p.P403S, p.P405L, and p.P405S) in Kv1.1 pore region found in four patients with severe developmental and epileptic encephalopathy (DEE), with those of a de novo variant in the voltage sensor (p.A261T) identified in two patients with mild, carbamazepine-responsive, focal epilepsy.
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants / Miceli, Francesco; Guerrini, Renzo; Nappi, Mario; Soldovieri, Maria Virginia; Cellini, Elena; Gurnett, Christina A.; Parmeggiani, Lucio; Mei, Davide; Taglialatela, Maurizio. - In: EPILEPSIA. - ISSN 1528-1167. - ELETTRONICO. - 63:(2021), pp. 7-14. [10.1111/epi.17118]
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants
Guerrini, Renzo;Cellini, Elena;Mei, Davide;
2021
Abstract
A wide phenotypic spectrum of neurological diseases is associated with KCNA1 (Kv1.1) variants. To investigate the molecular basis of such a heterogeneous clinical presentation and identify the possible correlation with in vitro phenotypes, we compared the functional consequences of three heterozygous de novo variants (p.P403S, p.P405L, and p.P405S) in Kv1.1 pore region found in four patients with severe developmental and epileptic encephalopathy (DEE), with those of a de novo variant in the voltage sensor (p.A261T) identified in two patients with mild, carbamazepine-responsive, focal epilepsy.
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