Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting...
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
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Author / Creator
Cousin, Margot A. , Veale, Emma L. , Dsouza, Nikita R. , Tripathi, Swarnendu , Holden, Robyn G. , Arelin, Maria , Beek, Geoffrey , Bekheirnia, Mir Reza , Beygo, Jasmin , Bhambhani, Vikas , Bialer, Martin , Bigoni, Stefania , Boelman, Cyrus , Carmichael, Jenny , Courtin, Thomas , Cogne, Benjamin , Dabaj, Ivana , Doummar, Diane , Fazilleau, Laura , Ferlini, Alessandra , Gavrilova, Ralitza H. , Graham, John M. , Haack, Tobias B. , Juusola, Jane , Kant, Sarina G. , Kayani, Saima , Keren, Boris , Ketteler, Petra , Klöckner, Chiara , Koopmann, Tamara T. , Kruisselbrink, Teresa M. , Kuechler, Alma , Lambert, Laëtitia , Latypova, Xénia , Lebel, Robert Roger , Leduc, Magalie S. , Leonardi, Emanuela , Lewis, Andrea M. , Liew, Wendy , Machol, Keren , Mardini, Samir , McWalter, Kirsty , Mignot, Cyril , McLaughlin, Julie , Murgia, Alessandra , Narayanan, Vinodh , Nava, Caroline , Neuser, Sonja , Nizon, Mathilde , Ognibene, Davide , Park, Joohyun , Platzer, Konrad , Poirsier, Céline , Radtke, Maximilian , Ramsey, Keri , Runke, Cassandra K. , Guillen Sacoto, Maria J. , Scaglia, Fernando , Shinawi, Marwan , Spranger, Stephanie , Tan, Ee Shien , Taylor, John , Trentesaux, Anne-Sophie , Vairo, Filippo , Willaert, Rebecca , Zadeh, Neda , Urrutia, Raul , Babovic-Vuksanovic, Dusica , Zimmermann, Michael T. , Mathie, Alistair and Klee, Eric W.
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS). The genotypic and phenotypic spectrum of KIS has yet to be described and the precise mechanism of disease fully understood.
This...
Alternative Titles
Full title
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Authors, Artists and Contributors
Author / Creator
Veale, Emma L.
Dsouza, Nikita R.
Tripathi, Swarnendu
Holden, Robyn G.
Arelin, Maria
Beek, Geoffrey
Bekheirnia, Mir Reza
Beygo, Jasmin
Bhambhani, Vikas
Bialer, Martin
Bigoni, Stefania
Boelman, Cyrus
Carmichael, Jenny
Courtin, Thomas
Cogne, Benjamin
Dabaj, Ivana
Doummar, Diane
Fazilleau, Laura
Ferlini, Alessandra
Gavrilova, Ralitza H.
Graham, John M.
Haack, Tobias B.
Juusola, Jane
Kant, Sarina G.
Kayani, Saima
Keren, Boris
Ketteler, Petra
Klöckner, Chiara
Koopmann, Tamara T.
Kruisselbrink, Teresa M.
Kuechler, Alma
Lambert, Laëtitia
Latypova, Xénia
Lebel, Robert Roger
Leduc, Magalie S.
Leonardi, Emanuela
Lewis, Andrea M.
Liew, Wendy
Machol, Keren
Mardini, Samir
McWalter, Kirsty
Mignot, Cyril
McLaughlin, Julie
Murgia, Alessandra
Narayanan, Vinodh
Nava, Caroline
Neuser, Sonja
Nizon, Mathilde
Ognibene, Davide
Park, Joohyun
Platzer, Konrad
Poirsier, Céline
Radtke, Maximilian
Ramsey, Keri
Runke, Cassandra K.
Guillen Sacoto, Maria J.
Scaglia, Fernando
Shinawi, Marwan
Spranger, Stephanie
Tan, Ee Shien
Taylor, John
Trentesaux, Anne-Sophie
Vairo, Filippo
Willaert, Rebecca
Zadeh, Neda
Urrutia, Raul
Babovic-Vuksanovic, Dusica
Zimmermann, Michael T.
Mathie, Alistair
Klee, Eric W.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_e3306fa1990545148f66b913263d56ba
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e3306fa1990545148f66b913263d56ba
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-022-01064-4
