Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features

scientific article published on 10 July 2019

Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.3390/IJMS20143382
P932PMC publication ID6678645
P698PubMed publication ID31295832

P50authorBeth Kline-FathQ86742309
Maria Virginia SoldovieriQ41669721
P2093author name stringEdward C Cooper
Paolo Ambrosino
Maurizio Taglialatela
Charu Venkatesan
Ilaria Mosca
Francesco Miceli
Lorella Maria Teresa Canzoniero
Cristina Franco
P2860cites workKCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channelQ22008501
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The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesisQ37411003
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M channel KCNQ2 subunits are localized to key sites for control of neuronal network oscillations and synchronization in mouse brain.Q42513993
KCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 proteinQ42520564
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Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.Q42619127
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PIP(2) activates KCNQ channels, and its hydrolysis underlies receptor-mediated inhibition of M currentsQ44386912
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Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variantQ47136304
Pharmacological Targeting Of Neuronal Kv7.2/3 Channels: A Focus On Chemotypes And Receptor SitesQ47902267
Septopreoptic holoprosencephaly: a mild subtype associated with midline craniofacial anomaliesQ48190846
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P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P433issue14
P577publication date2019-07-10
P1433published inInternational Journal of Molecular SciencesQ3153277
P1476titleEpileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features
P478volume20

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Q97522071Intellectual Disability and Potassium Channelopathies: A Systematic Reviewcites workP2860

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