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Page 1
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: diaz medina ge. 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.
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. Neurosurgery. 2023 Feb 1;92(2):398-406. doi: 10.1227/neu.0000000000002214. Epub 2022 Nov 10. Neurosurgery. 2023. PMID: 36637274
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.
Epilepsy: Epileptic Syndromes and Treatment.
Katyayan A, Diaz-Medina G. Katyayan A, et al. Neurol Clin. 2021 Aug;39(3):779-795. doi: 10.1016/j.ncl.2021.04.002. Neurol Clin. 2021. PMID: 34215386 Review.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.