Results 1 to 10 of about 4,036 (133)

Multi-Omics Analysis Reveals Nono–Kcnq2 Regulation of Neuronal Excitability in Chronic Constriction Injury-Induced Neuropathic Pain [PDF]

Research
Neuropathic pain, resulting from somatosensory nervous system damage or disease, is a debilitating condition marked by spontaneous pain, hypersensitivity, and sensory abnormalities.
Peng Chen, Jing Wu, Shaoshuai Tang, Qian Gong, Chen Wang, Wenjing Wang, Yuanhua Wu, Ting Tang, Ruixi Luo, Zhibing Wu, Zhaoyu Qin, Long Wang   +11 more
doaj   +2 more sources

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity. [PDF]

Epilepsia Open
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Seyedtaghia MR, Babanzadeh J, Scala M, Perilli L, Striano P.   +4 more
europepmc   +2 more sources

Pathogenic Variants in HEPACAM Alter Protein Localization and Interactome in Astrocytes of the Developing Mouse Cortex. [PDF]

Glia
Pathogenic variants alter hepaCAM protein distribution. Astrocyte‐specific hepaCAM TurboID reveals KCNQ2 as a new interaction partner. Pathogenic variants alter hepaCAM association with key transmembrane proteins. ABSTRACT Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare leukodystrophy characterized by early‐onset macrocephaly,
Lewis RW, Dogan BC, Stanek AL, Evans EB, Coble MG, Spence-Osorio HE, Farizatto KLG, Mordant AL, Mills CA, Herring LE, Baldwin KT.   +10 more
europepmc   +2 more sources

Clinical analysis and functional characterization of KCNQ2-related developmental and epileptic encephalopathy

Frontiers in Molecular Neuroscience, 2023
BackgroundDevelopmental and epileptic encephalopathy (DEE) is a condition characterized by severe seizures and a range of developmental impairments. Pathogenic variants in KCNQ2, encoding for potassium channel subunit, cause KCNQ2-related DEE. This study
Pu Miao, Qiang Shu, Yuezhou Li
exaly   +3 more sources

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes [PDF]

Neurobiology of Disease
Pathogenic variants in the KCNQ2 gene, which encodes a potassium channel subunit, are associated with neonatal seizures, epileptic encephalopathy, intellectual disability, and autism.
Maria Sundberg, Carole Shum, Erika M. Norabuena, Nina R. Makhortova, Cidi Chen, Lucy Yu, Emma V. Wightman, Kristina Kim, Sang Yeon Han, Jennifer Howe, Annapurna Poduri, Elizabeth D. Buttermore, Stephen W. Scherer, Mustafa Sahin   +13 more
doaj   +2 more sources

Novel proteolytic post-translational modification in voltage-gated potassium channel KCNQ2 [PDF]

Scientific Reports
KCNQ2 is a member of the voltage-gated potassium (Kv) channel family and regulates neuronal activity through potassium ion efflux. Pathogenic variants of KCNQ2 induce aberrant neuronal activity and cause two types of epilepsy: self-limited familial ...
Yuichi Kimura, Hidehiko Uchiyama, Koji Masuda, Shinichi Hirose   +3 more
doaj   +2 more sources

Kcnq2 R213 knock-in mice reveal variant- and region-specific mechanisms underlying self-limited familial neonatal-infantile epilepsy and early infantile developmental and epileptic encephalopathy [PDF]

Acta Neuropathologica Communications
KCNQ2 variants cause a spectrum of neonatal epilepsies, ranging from self-limited familial neonatal-infantile epilepsy (SeLFNIE) to early infantile developmental and epileptic encephalopathy (EIDEE).
Takuma Nishijo, Nanako Hamada, Reut Suliman-Lavie, Hidenori Tabata, Hidenori Ito, Ikuko Iwamoto, Sagiv Shifman, Koh-ichi Nagata   +7 more
doaj   +2 more sources

Assessment of gabapentin efficacy in patients with KCNQ2-developmental epileptic encephalopathy [PDF]

Scientific Reports
KCNQ2‑related developmental epileptic encephalopathy (KCNQ2‑DEE) is characterized by intractable epilepsy, cognitive impairment, and behavioral problems, highlighting the urgent need for precision therapies.
Juan Xiong, Xia You, Huazhen Li, Chen Chen, Haolin Duan, Shimeng Chen, Xiaoshuang Cao, Fang He, Yin Fei, Zhen Xiao, Jing Peng   +10 more
doaj   +2 more sources

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction [PDF]

Epilepsia Open
Objective Variants in KCNQ2 encoding the voltage‐gated potassium channel KV7.2 are associated with developmental and epileptic encephalopathy (DEE) of varying severity.
Jessa S. Bidwell, Carlos G. Vanoye, Reshma R. Desai, Anne T. Berg, Alfred L. George Jr   +4 more
doaj   +2 more sources

Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy

Journal of the Formosan Medical Association, 2021
Background: KCNQ2-associated epilepsy is most common in neonatal genetic epilepsy. A prompt diagnosis to initialize early treatment is important. Methods: We studied the electroencephalographic (EEG) changes including automated EEGs and conventional EEGs
Inn-Chi Lee, Ming-Yuh Chang, Jao-Shwann Liang, Tung-Ming Chang   +3 more
doaj   +1 more source