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Gain and Loss of TASK3 Channel Function and Its Regulation by Novel Variation Cause KCNK9 Imprinting Syndrome

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,Klee Eric W.

Genome Medicine（2022）

引用 12|浏览106
关键词
KCNK9 imprinting syndrome,TASK3 channel,Neurodevelopmental disorder,Electrophysiology,Computational protein modeling
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