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Making it "EASI" for pediatricians to determine when toddler tantrums are "more than the terrible twos": Proof-of-concept for primary care screening with the Multidimensional Assessment Profiles-Early Assessment Screener for Irritability (MAPS-EASI).
Wakschlag LS, Carroll AJ, Friedland S, Walkup J, Wiggins JL, Mohanty N, Papacek E, Bridi S, Carroll R, Drelicharz D, Hasan Z, Kotagal T, Davis MM, Smith JD. Wakschlag LS, et al. Fam Syst Health. 2024 Mar;42(1):34-49. doi: 10.1037/fsh0000868. Fam Syst Health. 2024. PMID: 38647492
Spectrum of KV 2.1 Dysfunction in KCNB1-Associated Neurodevelopmental Disorders.
Kang SK, Vanoye CG, Misra SN, Echevarria DM, Calhoun JD, O'Connor JB, Fabre KL, McKnight D, Demmer L, Goldenberg P, Grote LE, Thiffault I, Saunders C, Strauss KA, Torkamani A, van der Smagt J, van Gassen K, Carson RP, Diaz J, Leon E, Jacher JE, Hannibal MC, Litwin J, Friedman NR, Schreiber A, Lynch B, Poduri A, Marsh ED, Goldberg EM, Millichap JJ, George AL Jr, Kearney JA. Kang SK, et al. Ann Neurol. 2019 Dec;86(6):899-912. doi: 10.1002/ana.25607. Epub 2019 Oct 24. Ann Neurol. 2019. PMID: 31600826 Free PMC article.
This will aid in establishing KCNB1 variant pathogenicity and the mechanism of dysfunction, which will enable targeted strategies for therapeutic intervention based on molecular phenotype. ANN NEUROL 2019;86:899-912....
This will aid in establishing KCNB1 variant pathogenicity and the mechanism of dysfunction, which will enable targeted strategies for therap …