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ProteomicsMislocalization of KCNQ2 Channels as a Pathogenic Mechanism in KCNQ2 Developmental and Epileptic Encephalopathy
KCNQ2 potassium channel variants are linked to developmental and epileptic encephalopathy (DEE). However, the mechanisms by which pathogenic variants, especially those outside known hotspots, such as the S4–S5 linker, lead to disease remain unknown. Here, we examined the H228R variant, a pathogenic ...
ORGANISM(S): Mus musculus (Mouse) 
2026-01-12 | PXD069563 | Pride
Channel Epilepsy Development Kcnq2 Encephalopathy Immunoprecipitation 
ProteomicsKCNQ2 and KCNQ5 can form a channel complex in the brain independent of KCNQ3 channels
KCNQ2 and KCNQ3 channels are associated with multiple neurodevelopmental disorders and are also therapeutic targets for neurological and neuropsychiatric diseases. The current dogma is that, in the brain, KCNQ2 forms diheteromeric channels with KCNQ3, but not with KCNQ5, a channel also resident in n...
ORGANISM(S): Homo sapiens (Human) 
2022-03-24 | PXD028142 | Pride
Kcnq5 Kcnq3 Epilepsy Autism spectrum disorders Co-immunoprecipitation Mass spectrometry Kcnq2 Neurodevelopmental disorders Channelopathy 
UnknownPlural molecular and cellular mechanisms of pore domain <i>KCNQ2</i> encephalopathy.
Not available
S-EPMC11703504 | biostudies-literature
UnknownPlural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy.
Not available
S-EPMC10802467 | biostudies-literature
GenomicsStem cell-derived human glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Stem cell-derived human glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
PRJNA1234669 | ENA
TranscriptomicsStem cell-derived human glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes
Pathogenic variants in the KCNQ2 gene, which encodes a potassium channel subunit, are associated with neonatal seizures, epileptic encephalopathy, intellectual disability, and autism. Although the consequences of disrupted KCNQ2 channel function have been studied in the past, the detailed molecular ...
ORGANISM(S): Mus musculus 
2026-01-12 | GSE291694 | GEO
GenomicsMulti-Omics Analysis Reveals Nono-Kcnq2 Regulation of Neuronal Excitability in Neuropathic Pain
Multi-Omics Analysis Reveals Nono-Kcnq2 Regulation of Neuronal Excitability in Neuropathic Pain
PRJNA1303016 | ENA
UnknownCharacteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
Not available
S-EPMC11812603 | biostudies-literature
GenomicsMulti-Omics Analysis Reveals Nono-Kcnq2 Regulation of Neuronal Excitability in Neuropathic Pain [scRNA-Seq]
Multi-Omics Analysis Reveals Nono-Kcnq2 Regulation of Neuronal Excitability in Neuropathic Pain [scRNA-Seq]
PRJNA1302408 | ENA
OtherMulti-Omics Analysis Reveals Nono-Kcnq2 Regulation of Neuronal Excitability in Neuropathic Pain
Neuropathic pain imposes a profound, multidimensional burden on patients, largely due to limited therapeutic options stemming from inadequately understood pathomechanisms. In this study, we employed an integrated multi-omics approach to identify a novel Nono–KCNQ2 regulatory axis that underpins pain...
ORGANISM(S): Rattus norvegicus 
2026-07-22 | GSE304826 | GEO
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