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Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Among authors: lee jh. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
Precise detection of low-level somatic mutation in resected epilepsy brain tissue.
Sim NS, Ko A, Kim WK, Kim SH, Kim JS, Shim KW, Aronica E, Mijnsbergen C, Spliet WGM, Koh HY, Kim HD, Lee JS, Kim DS, Kang HC, Lee JH. Sim NS, et al. Among authors: lee js, lee jh. Acta Neuropathol. 2019 Dec;138(6):901-912. doi: 10.1007/s00401-019-02052-6. Epub 2019 Aug 3. Acta Neuropathol. 2019. PMID: 31377847
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC, Kobow K, Coras R, Chipaux M, Dorfmüller G, Adle-Biassette H, Aronica E, Lee JH, Blumcke I, Baulac S. Bonduelle T, et al. Among authors: lee jh. Acta Neuropathol Commun. 2021 Jan 6;9(1):3. doi: 10.1186/s40478-020-01085-3. Acta Neuropathol Commun. 2021. PMID: 33407896 Free PMC article.
MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.
Korotkov A, Sim NS, Luinenburg MJ, Anink JJ, van Scheppingen J, Zimmer TS, Bongaarts A, Broekaart DWM, Mijnsbergen C, Jansen FE, Van Hecke W, Spliet WGM, van Rijen PC, Feucht M, Hainfellner JA, Kršek P, Zamecnik J, Crino PB, Kotulska K, Lagae L, Jansen AC, Kwiatkowski DJ, Jozwiak S, Curatolo P, Mühlebner A, Lee JH, Mills JD, van Vliet EA, Aronica E. Korotkov A, et al. Among authors: lee jh. Neuropathol Appl Neurobiol. 2021 Oct;47(6):796-811. doi: 10.1111/nan.12717. Epub 2021 Jun 14. Neuropathol Appl Neurobiol. 2021. PMID: 33942341 Free PMC article.
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