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PURA-Related Developmental and Epileptic Encephalopathy:Phe..:

Johannesen, Katrine M ; Gardella, Elena ; Gjerulfsen, Cathrine E...
Johannesen , K M , Gardella , E , Gjerulfsen , C E , Bayat , A , Rouhl , R P W , Reijnders , M , Whalen , S , Keren , B , Buratti , J , Courtin , T , Wierenga , K J , Isidor , B , Piton , A , Faivre , L , Garde , A , Moutton , S , Tran-Mau-Them , F , Denommé-Pichon , A S , Coubes , C , Larson , A , Esser , M J , Appendino , J P , Al-Hertani , W , Gamboni , B , Mampel , A , Mayorga , L , Orsini , A , Bonuccelli , A , Suppiej , A , Van-Gils , J , Vogt , J , Damioli , S , Giordano , L , Moortgat , S , Wirrell , E , Hicks , S , Kini , U , Noble , N , Stewart , H , Asakar , S , Cohen , J S , Naidu , S B R , Collier , A , Brilstra , E H , Li , M H , Brew , C , Bigoni , S , Ognibene , D , Møller , R S , Rubboli , G & PURA study group 2021 , ' PURA-Related Developmental and Epileptic Encephalopathy : Phenotypic and Genotypic Spectrum ' , Neurology: Genetics , vol. 7 , no. 6 , e613 . https://doi.org/10.1212/NXG.0000000000000613.  , 2021