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A PAK1 Mutational Hotspot Within the Regulatory CRIPaK Domain is Associated With Severe Neurodevelopmental Disorders in Children.
Scorrano G, D'Onofrio G, Accogli A, Severino M, Buchert R, Kotzaeridou U, Iapadre G, Farello G, Iacomino M, Dono F, Di Francesco L, Fiorile MF, La Bella S, Corsello A, Calì E, Di Rosa G, Gitto E, Verrotti A, Fortuna S, Soler MA, Chiarelli F, Oehl-Jaschkowitz B, Haack TB, Zara F, Striano P, Salpietro V. Scorrano G, et al. Among authors: iapadre g. Pediatr Neurol. 2023 Dec;149:84-92. doi: 10.1016/j.pediatrneurol.2023.09.005. Epub 2023 Sep 16. Pediatr Neurol. 2023. PMID: 37820543
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Diet in the Treatment of Epilepsy: What We Know So Far.
Verrotti A, Iapadre G, Di Francesco L, Zagaroli L, Farello G. Verrotti A, et al. Among authors: iapadre g. Nutrients. 2020 Aug 30;12(9):2645. doi: 10.3390/nu12092645. Nutrients. 2020. PMID: 32872661 Free PMC article. Review.
Intramuscular Midazolam for treatment of Status Epilepticus.
Riva A, Iapadre G, Grasso EA, Balagura G, Striano P, Verrotti A. Riva A, et al. Among authors: iapadre g. Expert Opin Pharmacother. 2021 Jan;22(1):37-44. doi: 10.1080/14656566.2020.1810236. Epub 2020 Aug 25. Expert Opin Pharmacother. 2021. PMID: 32840150 Review.
25 results