A structurally precise mechanism links an epilepsy-associated KCNC2 potassium channel mutation to interneuron dysfunction
De novo heterozygous variants in KCNC2 encoding the voltage-gated potassium (K+)
channel subunit Kv3. 2 are a recently described cause of developmental and epileptic …
channel subunit Kv3. 2 are a recently described cause of developmental and epileptic …
[HTML][HTML] Single-cell RNA sequencing in donor and end-stage heart failure patients identifies NLRP3 as a therapeutic target for arrhythmogenic right ventricular …
M Fu, X Hua, S Shu, X Xu, H Zhang, Z Peng, H Mo… - BMC medicine, 2024 - Springer
Background Dilation may be the first right ventricular change and accelerates the
progression of threatening ventricular tachyarrhythmias and heart failure for patients with …
progression of threatening ventricular tachyarrhythmias and heart failure for patients with …
CircRNA‐associated ceRNA regulatory networks as emerging mechanisms governing the development and biophysiopathology of epilepsy
M Kohansal, YK Alghanimi, SR Banoon… - CNS Neuroscience …, 2024 - Wiley Online Library
The etiology of epilepsy is ascribed to the synchronized aberrant neuronal activity within the
brain. Circular RNAs (circRNAs), a class of non‐coding RNAs characterized by their circular …
brain. Circular RNAs (circRNAs), a class of non‐coding RNAs characterized by their circular …
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
S Yoganathan, R Whitney, M Thomas, S Danda… - …, 2024 - Wiley Online Library
Objective KCTD7‐related progressive myoclonic epilepsy (PME) is a rare autosomal‐
recessive disorder. This study aimed to describe the clinical details and genetic variants in a …
recessive disorder. This study aimed to describe the clinical details and genetic variants in a …
[HTML][HTML] Targeted therapy improves cellular dysfunction, ataxia, and seizure susceptibility in a model of a progressive myoclonus epilepsy
The recurrent variant KCNC1-p. Arg320His causes progressive myoclonus epilepsy (EPM)
type 7, defined by progressive myoclonus, epilepsy, and ataxia, and is without effective …
type 7, defined by progressive myoclonus, epilepsy, and ataxia, and is without effective …
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5
CA Franchino, M Brughera, V Baderna, D De Ritis… - Brain, 2024 - academic.oup.com
AFG3L2 is a mitochondrial protease exerting protein quality control in the inner
mitochondrial membrane. Heterozygous AFG3L2 mutations cause spinocerebellar ataxia …
mitochondrial membrane. Heterozygous AFG3L2 mutations cause spinocerebellar ataxia …
Primate model carrying LMNA mutation develops dilated cardiomyopathy
X Luo, H Jia, F Wang, H Mo, Y Kang, N Zhang… - Basic to Translational …, 2024 - jacc.org
To solve the clinical transformation dilemma of lamin A/C (LMNA)-mutated dilated
cardiomyopathy (LMD), we developed an LMNA-mutated primate model based on the …
cardiomyopathy (LMD), we developed an LMNA-mutated primate model based on the …
Overexpression of KCNN4 channels in principal neurons produces an anti-seizure effect without reducing their coding ability
ES Nikitin, TY Postnikova, EY Proskurina… - Gene Therapy, 2024 - nature.com
Gene therapy offers a potential alternative to the surgical treatment of epilepsy, which affects
millions of people and is pharmacoresistant in~ 30% of cases. Aimed at reducing the …
millions of people and is pharmacoresistant in~ 30% of cases. Aimed at reducing the …
[HTML][HTML] A genome-wide association study of Chinese and English language phenotypes in Hong Kong Chinese children
Dyslexia and developmental language disorders are important learning difficulties.
However, their genetic basis remains poorly understood, and most genetic studies were …
However, their genetic basis remains poorly understood, and most genetic studies were …
[HTML][HTML] Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss
P Lei, Q Zhu, W Dong - Scientific Reports, 2024 - nature.com
Hearing loss is considered one of the most common sensory neurological defects, with
approximately 60% of cases attributed to genetic factors. Human pathogenic variants in the …
approximately 60% of cases attributed to genetic factors. Human pathogenic variants in the …