Kv7.2 (KCNQ2) channel dysfunctions cause a rare form of neonatal and infantile epileptic and developmental encephalopathy (MIM 613720).(1) Unlike early clinical features and the epilepsy phenotype of KCNQ2 encephalopathy, data about the long-term developmental outcome are lacking. We followed up for over 3 decades a girl with this disease.
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood / Mastrangelo, Mario; Manti, Filippo; Giannini, Maria Teresa; Guerrini, Renzo; Leuzzi, Vincenzo. - In: NEUROLOGY. GENETICS. - ISSN 2376-7839. - ELETTRONICO. - 6:(2020), pp. e510.0-e510.0. [10.1212/NXG.0000000000000510]
KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood
Mastrangelo, Mario;Guerrini, Renzo;
2020
Abstract
Kv7.2 (KCNQ2) channel dysfunctions cause a rare form of neonatal and infantile epileptic and developmental encephalopathy (MIM 613720).(1) Unlike early clinical features and the epilepsy phenotype of KCNQ2 encephalopathy, data about the long-term developmental outcome are lacking. We followed up for over 3 decades a girl with this disease.
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