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First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

机译：首次从头发生KCND3突变会导致严重的Kv4.3通道功能障碍，导致小脑共济失调，智力障碍，口腔失用症和癫痫发作

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Katrien Smets; Anna Duarri; Tine Deconinck; Berten Ceulemans; Bart P. van de Warrenburg; Stephan Züchner; Michael Anthony Gonzalez; Rebecca Schüle; Matthis Synofzik; Nathalie Van der Aa; Peter De Jonghe; Dineke S. Verbeek; Jonathan Baets;
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1. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy [J] . Katrien Smets, Anna Duarri, Tine Deconinck, BMC Medical Genetics . 2015,第1期

机译：从头开始的KCND3突变会导致严重的Kv4.3通道功能障碍，导致小脑共济失调，智力障碍，口腔失用症和癫痫发作
2. A de novo mutation in the NALCN gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis [J] . Wang Y., Koh K., Ichinose Y., Clinical Genetics: An International Journal of Genetics in Medicine . 2016,第6期

机译：成年小脑性共济失调与智力障碍和关节软化相关的NALCN基因从头突变
3. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia [J] . Kanca Oguz, Andrews Jonathan C., Lee Pei-Tseng, The American Journal of Human Genetics . 2019,第2期

机译：WDR37中的Novo变体与癫痫，Colobomas，疑难术，发育延迟，智力障碍和小脑发育性有关
4. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia intellectual disability oral apraxia and epilepsy [O] . Katrien Smets, Anna Duarri, Tine Deconinck, 2015

机译：首次从头发生KCND3突变会导致严重的Kv4.3通道功能障碍导致小脑共济失调智力障碍口腔失用症和癫痫发作
5. First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy [O] . Smets, Katrien, Duarri, Anna, Deconinck, Tine, 2015

机译：首次从头发生KCND3突变会导致严重的Kv4.3通道功能障碍，导致小脑共济失调，智力障碍，口腔失用症和癫痫发作

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

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