De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
In this study, we report the functional consequences of 48 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that alter residues in the M3 transmembrane helix. These de novo variants were identified in children with neurological and neuropsychiatric disorders including epilepsy, developmental delay, intellectual disability, hypotonia and attention deficit hyperactivity disorder. All 48 variants in M3 for which comprehensive testing was completed produce a gain-of-function (28/48) compared to loss-of-function (9/48); 11 variants had an indeterminant phenotype. This supports the idea that a key structural feature of the...
Source: Cellular and Molecular Life Sciences : CMLS - March 28, 2024 Category: Cytology Authors: Yuchen Xu Rui Song Riley E Perszyk Wenjuan Chen Sukhan Kim Kristen L Park James P Allen Kelsey A Nocilla Jing Zhang Wenshu XiangWei Anel Tankovic Ellington D McDaniels Rehan Sheikh Ruth K Mizu Manish M Karamchandani Chun Hu Hirofumi Kusumoto Joseph Pecha Source Type: research
Attention deficit and hyperactivity disorder and use of psychostimulants in Aotearoa, New Zealand: exploring the treatment gap
Discussion The data suggest failure of our health system to provide reasonable health care for a significant number of people with ADHD, and results in inequity in outcomes. New approaches are needed that will increase access to first-line medication, yet maintain appropriateness of diagnosis and limit risk of medication diversion.PMID:38546775 | DOI:10.1071/HC23126 (Source: Journal of Primary Health Care)
Source: Journal of Primary Health Care - March 28, 2024 Category: Primary Care Authors: Steven Lillis Source Type: research
Attention deficit and hyperactivity disorder and use of psychostimulants in Aotearoa, New Zealand: exploring the treatment gap
Discussion The data suggest failure of our health system to provide reasonable health care for a significant number of people with ADHD, and results in inequity in outcomes. New approaches are needed that will increase access to first-line medication, yet maintain appropriateness of diagnosis and limit risk of medication diversion.PMID:38546775 | DOI:10.1071/HC23126 (Source: Primary Care)
Source: Primary Care - March 28, 2024 Category: Primary Care Authors: Steven Lillis Source Type: research
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor
In this study, we report the functional consequences of 48 de novo missense variants in GRIN1, GRIN2A, and GRIN2B that alter residues in the M3 transmembrane helix. These de novo variants were identified in children with neurological and neuropsychiatric disorders including epilepsy, developmental delay, intellectual disability, hypotonia and attention deficit hyperactivity disorder. All 48 variants in M3 for which comprehensive testing was completed produce a gain-of-function (28/48) compared to loss-of-function (9/48); 11 variants had an indeterminant phenotype. This supports the idea that a key structural feature of the...
Source: Cellular and Molecular Life Sciences : CMLS - March 28, 2024 Category: Cytology Authors: Yuchen Xu Rui Song Riley E Perszyk Wenjuan Chen Sukhan Kim Kristen L Park James P Allen Kelsey A Nocilla Jing Zhang Wenshu XiangWei Anel Tankovic Ellington D McDaniels Rehan Sheikh Ruth K Mizu Manish M Karamchandani Chun Hu Hirofumi Kusumoto Joseph Pecha Source Type: research
Attention deficit and hyperactivity disorder and use of psychostimulants in Aotearoa, New Zealand: exploring the treatment gap
Discussion The data suggest failure of our health system to provide reasonable health care for a significant number of people with ADHD, and results in inequity in outcomes. New approaches are needed that will increase access to first-line medication, yet maintain appropriateness of diagnosis and limit risk of medication diversion.PMID:38546775 | DOI:10.1071/HC23126 (Source: Journal of Primary Health Care)
Source: Journal of Primary Health Care - March 28, 2024 Category: Primary Care Authors: Steven Lillis Source Type: research
