2022
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics In Medicine 2022, 24: 1941-1951. PMID: 35678782, DOI: 10.1016/j.gim.2022.05.009.Peer-Reviewed Original ResearchConceptsPathogenic missense variantsMissense variantsIntellectual disabilityCation-chloride cotransportersGenome sequenceCatalytic domainInhibitory phosphorylationStructural brain abnormalitiesStructural brain defectsRare pathogenic variantsLarge familyWNK3Synaptic inhibitionCotransporter KCC2Brain abnormalitiesRare formPathogenic mechanismsDifferent familiesSporadic formsPathogenic variantsBrain defectsUnrelated familiesAffected individualsKCC2Epilepsy
2019
Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation
Duy PQ, David WB, Kahle KT. Identification of KCC2 Mutations in Human Epilepsy Suggests Strategies for Therapeutic Transporter Modulation. Frontiers In Cellular Neuroscience 2019, 13: 515. PMID: 31803025, PMCID: PMC6873151, DOI: 10.3389/fncel.2019.00515.Peer-Reviewed Original ResearchHuman epilepsySignificant drug-related adverse effectsDrug-related adverse effectsMedication-refractory epilepsyDevelopment of epilepsyCommon neurological disorderPotential therapeutic strategyKCC2 dysfunctionNeuronal hyperexcitabilityGABA inhibitionGABAergic inhibitionSeizure disorderUnprovoked seizuresImpaired balanceKCC2 activityNeuronal excitabilityNeuronal excitationTherapeutic strategiesTransporter modulationEpileptic seizuresEpilepsyNeurological disordersChloride homeostasisSatisfactory treatmentAdverse effects