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Article
Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology
Potassium voltage-gated channel subfamily a member 2 (Kv1.2, encoded by KCNA2) is highly expressed in the central and peripheral nervous systems. Based on the patch clamp studies, gain-of function (GOF), loss-of-...
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Article
Open AccessGenotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China
We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China.
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Article
Open AccessFamilial SYN1 variants related neurodevelopmental disorders in Asian pediatric patients
SYN1 encodes synapsin I, which is a neuronal phosphoprotein involving in regulating axonogenesis and synaptogenesis. Variants in the gene have been associated with X-linked neurodevelopmental disorders in recent ...
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Article
Open AccessCalcium channelopathies and intellectual disability: a systematic review
Calcium ions are involved in several human cellular processes including corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between calcium channelopathies (CCs) and intellectual ...
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Article
The Study of Genetic Susceptibility and Mitochondrial Dysfunction in Mesial Temporal Lobe Epilepsy
The aim of this study is to investigate the mitochondrial dysfunction and pathogenic role of the mitochondrial genome in the progression of mesial temporal lobe epilepsy (MTLE) in vivo and in vitro. Mitochondrial...
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Article
Open AccessThe patterns of response of 11 regimens for infantile spasms
Infantile spasms (ISs) is a devastating form of an early infantile epileptic encephalopathy. The patterns of response of multiple regimens, and the difference in response rates for the cases who receive first-...
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Article
Open AccessGenetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review
Electrical status epilepticus during slow-wave sleep (ESESS) which is also known as continuous spike-wave of slow sleep (CSWSS) is type of electroencephalographic (EEG) pattern which is seen in ESESS/CSWSS/epi...
