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Page 1
Epilepsy Surgery in Young Children With Tuberous Sclerosis Complex: A Novel Hybrid Multimodal Surgical Approach.
Ravindra VM, Karas PJ, Lazaro TT, Coorg R, Awad AW, Patino I, McClernon EE, Clarke D, Cairampoma Whitehead L, Anderson A, Diaz-Medina G, Houck K, Katyayan A, Masters L, Nath A, Quach M, Riviello J, Seto ES, Sully K, Agurs L, Sen S, Handoko M, LoPresti M, Ali I, Curry DJ, Weiner HL. Ravindra VM, et al. Among authors: seto es. Neurosurgery. 2023 Feb 1;92(2):398-406. doi: 10.1227/neu.0000000000002214. Epub 2022 Nov 10. Neurosurgery. 2023. PMID: 36637274
PAK1 c.1409 T > a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature.
Corriveau ML, Amaya SI, Koebel MC, Lerma VC, Michener SL, Turner A, Schultz RJ, Seto ES, Diaz-Medina GE, Craigen WJ, Swann JW, Xue M, Chao HT. Corriveau ML, et al. Among authors: seto es. Am J Med Genet A. 2023 Jun;191(6):1619-1625. doi: 10.1002/ajmg.a.63177. Epub 2023 Mar 10. Am J Med Genet A. 2023. PMID: 36905087 Review.
An Initial Experience of Completion Hemispherotomy via Magnetic Resonance-Guided Laser Interstitial Therapy.
Ravindra VM, Ruggieri L, Gadgil N, Addison AP, Patino I, Gonda DD, Chu J, Whitehead L, Anderson A, Diaz-Medina G, Houck K, Katyayan A, Masters L, Nath A, Quach M, Riviello JJ, Seto E, Sully KE, Agurs L, Sen S, Handoko M, Coorg R, Ali I, Ikeda D, Weiner H, Curry DJ. Ravindra VM, et al. Stereotact Funct Neurosurg. 2023;101(3):179-187. doi: 10.1159/000528452. Epub 2023 Apr 14. Stereotact Funct Neurosurg. 2023. PMID: 37062282 Free article.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782 Free PMC article.
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
24 results