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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits.
Vaags AK, Bowdin S, Smith ML, Gilbert-Dussardier B, Brocke-Holmefjord KS, Sinopoli K, Gilles C, Haaland TB, Vincent-Delorme C, Lagrue E, Harbuz R, Walker S, Marshall CR, Houge G, Kalscheuer VM, Scherer SW, Minassian BA. Vaags AK, et al. Among authors: smith ml. Ann Neurol. 2014 Nov;76(5):758-64. doi: 10.1002/ana.24274. Epub 2014 Oct 4. Ann Neurol. 2014. PMID: 25223753
Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.
Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA. Alkhater RA, et al. Among authors: smith ml. Ann Clin Transl Neurol. 2019 Mar 7;6(4):807-811. doi: 10.1002/acn3.727. eCollection 2019 Apr. Ann Clin Transl Neurol. 2019. PMID: 31020005 Free PMC article.
Astrocytic inclusions in epilepsy: expanding the spectrum of filaminopathies.
Hazrati LN, Kleinschmidt-DeMasters BK, Handler MH, Smith ML, Ochi A, Otsubo H, Rutka JT, Go C, Weiss S, Hawkins CE. Hazrati LN, et al. Among authors: smith ml. J Neuropathol Exp Neurol. 2008 Jul;67(7):669-76. doi: 10.1097/NEN.0b013e31817d7a06. J Neuropathol Exp Neurol. 2008. PMID: 18596546
1,985 results