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CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.
El Ghaleb Y, Schneeberger PE, Fernández-Quintero ML, Geisler SM, Pelizzari S, Polstra AM, van Hagen JM, Denecke J, Campiglio M, Liedl KR, Stevens CA, Person RE, Rentas S, Marsh ED, Conlin LK, Tuluc P, Kutsche K, Flucher BE. El Ghaleb Y, et al. Among authors: kutsche k. Brain. 2021 Aug 17;144(7):2092-2106. doi: 10.1093/brain/awab101. Brain. 2021. PMID: 33704440 Free PMC article.
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S, Harms FL, Parrini E, Montomoli M, Mütze U, Helbig KL, Polster T, Albrecht B, Bernbeck U, van Binsbergen E, Biskup S, Burglen L, Denecke J, Heron B, Heyne HO, Hoffmann GF, Hornemann F, Matsushige T, Matsuura R, Kato M, Korenke GC, Kuechler A, Lämmer C, Merkenschlager A, Mignot C, Ruf S, Nakashima M, Saitsu H, Stamberger H, Pisano T, Tohyama J, Weckhuysen S, Werckx W, Wickert J, Mari F, Verbeek NE, Møller RS, Koeleman B, Matsumoto N, Dobyns WB, Battaglia D, Lemke JR, Kutsche K, Guerrini R. Syrbe S, et al. Among authors: kutsche k. Brain. 2017 Sep 1;140(9):2322-2336. doi: 10.1093/brain/awx195. Brain. 2017. PMID: 29050398 Free PMC article.
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
Bauer CK, Schneeberger PE, Kortüm F, Altmüller J, Santos-Simarro F, Baker L, Keller-Ramey J, White SM, Campeau PM, Gripp KW, Kutsche K. Bauer CK, et al. Among authors: kutsche k. Am J Hum Genet. 2019 Jun 6;104(6):1139-1157. doi: 10.1016/j.ajhg.2019.04.012. Epub 2019 May 30. Am J Hum Genet. 2019. PMID: 31155282 Free PMC article.
A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions.
Coste de Bagneaux P, von Elsner L, Bierhals T, Campiglio M, Johannsen J, Obermair GJ, Hempel M, Flucher BE, Kutsche K. Coste de Bagneaux P, et al. Among authors: kutsche k. PLoS Genet. 2020 Mar 16;16(3):e1008625. doi: 10.1371/journal.pgen.1008625. eCollection 2020 Mar. PLoS Genet. 2020. PMID: 32176688 Free PMC article.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A; Undiagnosed Diseases Network; Gelb BD, Kurth I, Hempel M, Kutsche K. Schneeberger PE, et al. Among authors: kutsche k. Brain. 2020 Aug 1;143(8):2437-2453. doi: 10.1093/brain/awaa204. Brain. 2020. PMID: 32761064 Free PMC article.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Schneeberger PE, von Elsner L, Barker EL, Meinecke P, Marquardt I, Alawi M, Steindl K, Joset P, Rauch A, Zwijnenburg PJG, Weiss MM, Merry CLR, Kutsche K. Schneeberger PE, et al. Among authors: kutsche k. Am J Hum Genet. 2020 Dec 3;107(6):1044-1061. doi: 10.1016/j.ajhg.2020.10.007. Epub 2020 Nov 6. Am J Hum Genet. 2020. PMID: 33159882 Free PMC article.
152 results