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Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders.
Burglen L, Van Hoeymissen E, Qebibo L, Barth M, Belnap N, Boschann F, Depienne C, De Clercq K, Douglas AGL, Fitzgerald MP, Foulds N, Garel C, Helbig I, Held K, Horn D, Janssen A, Kaindl AM, Narayanan V, Prager C, Rupin-Mas M, Afenjar A, Zhao S, Ramaekers VT, Ruggiero SM, Thomas S, Valence S, Van Maldergem L, Rohacs T, Rodriguez D, Dyment D, Voets T, Vriens J. Burglen L, et al. Among authors: kaindl am. Elife. 2023 Jan 17;12:e81032. doi: 10.7554/eLife.81032. Elife. 2023. PMID: 36648066 Free PMC article.
Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.
Ravindran E, Arashiki N, Becker LL, Takizawa K, Lévy J, Rambaud T, Makridis KL, Goshima Y, Li N, Vreeburg M, Demeer B, Dickmanns A, Stegmann APA, Hu H, Nakamura F, Kaindl AM. Ravindran E, et al. Among authors: kaindl am. Elife. 2022 Dec 13;11:e80793. doi: 10.7554/eLife.80793. Elife. 2022. PMID: 36511780 Free PMC article.
The importance of routine genetic testing in pediatric epilepsy surgery.
Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM. Becker LL, et al. Among authors: kaindl am. Epilepsia Open. 2024 Apr;9(2):800-807. doi: 10.1002/epi4.12916. Epub 2024 Feb 17. Epilepsia Open. 2024. PMID: 38366963 Free PMC article.
Autosomal Recessive Primary Microcephaly (MCPH): An Update.
Zaqout S, Morris-Rosendahl D, Kaindl AM. Zaqout S, et al. Among authors: kaindl am. Neuropediatrics. 2017 Jun;48(3):135-142. doi: 10.1055/s-0037-1601448. Epub 2017 Apr 11. Neuropediatrics. 2017. PMID: 28399591 Review.
170 results