MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry
Reference5 articles.
1. SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation;Krapivinsky;Neuron,2004
2. Epilepsy-associated genes;Wang;Seizure,2017
3. DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction;Marivin;Mol Biol Cell,2019
4. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy;Mignot;J Med Genet,2016
5. Interaction of serotonin 5-hydroxytryptamine type 2C receptors with PDZ10 of the multi-PDZ domain protein MUPP1;Becamel;J Biol Chem,2001
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1. Epilepsy-associated genes: an update;Seizure: European Journal of Epilepsy;2023-09
2. Genetic Dependence and Genetic Diseases;2023-08-05
3. Identification of novel pathogenic genes of childhood epileptic encephalopathies;2023-07-27
4. Common genetic epilepsies, pathogenicity of genes/variants, and genetic dependence;Seizure: European Journal of Epilepsy;2023-07
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