Saima Kayani, M.D. Titles and Appointments Associate Professor Schools Medical School Departments Pediatrics You have reached the Academic Profile. For more information on the doctor and patient care, please visit the clinical profile. Biography Dr. Saima Kayani is a Child Neurologist with additional training in Medical Genetics. Her advanced training helps her better understand the clinical and basic molecular mechanisms of neurogenetic diseases. She is board certified in pediatrics and neurology. Throughout her fellowships at UT Southwestern, she worked seeing complex patients in Child Neurology and Medical Genetics and the Rare Brain Disorders Clinic at Children’s Medical Center, and also scientifically collaborated in the rodent lab to understand the underlying genetic and physiological components of several rare disorders currently under study. Dr. Kayani is passionate about helping children with rare disorders and finding better ways to treat these children. She is devoted to research, not only the clinical research to understand the natural history of rare disorders but also translational research to bring cutting edge therapies to our patients. Education Medical School King Edward Medical University, Pakistan (2002) Residency Texas A&M College of Medicine/Baylor Scott & White Medical Center - Temple (2009), Pediatrics Residency UT Southwestern Medical Center (2012), Child Neurology Residency UT Southwestern/Children's Medical Center (2014), Medical Genetics Research Interest The role of intravenous levetiracetam in management of status epilepticus Triheptanoin in glucose trans 1-D mice Publications First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial Greenberg BM, Minassian B, Messahel S, Edgar VB, Lowden A, Dahshi H, Nettesheim ER, Nguyen HH, Hughes S, Muthukumar AR, Srinivasan K, Iannaccone S, Varadarajan G, Gray SJ, Kayani SN EBioMedicine 2026 Jan 123 SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype Kayani S, Daescu V, Dahshi H, Messahel S, Woleban K, Minassian BA, Ling Q, Gray SJ American Journal of Medical Genetics, Part A 2025 Apr 197 Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM Orphanet Journal of Rare Diseases 2024 Dec 19 Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene. Ganesh VS, Riquin K, Chatron N, Yoon E, Lamar KM, Aziz MC, Monin P, O'leary MC, Goodrich JK, Garimella KV, England E, Weisburd B, Aguet F, Bacino CA, Murdock DR, Dai H, Rosenfeld JA, Emrick LT, Ketkar S, Sarusi Y, Sanlaville D, Kayani S, Broadbent B, Pengam A, Isidor B, Bezieau S, Cogné B, Macarthur DG, Ulitsky I, Carvill GL, O'donnell-Luria A New England Journal of Medicine 2024 Oct 391 1511-1518 Response to the letter by Josef Finsterer, MD, PhD Kayani S European Journal of Paediatric Neurology 2024 Jul 51 147 Mitochondrial encephalopathies and myopathies: Our tertiary center's experience Ozlu C, Messahel S, Minassian B, Kayani S European Journal of Paediatric Neurology 2024 May 50 31-40 A neurologic gene map Kayani SN, Wilson KS, Rosenberg RN 2024 Jan 2 979-1081 Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D) Avila A, Málaga I, Sirsi D, Kayani S, Primeaux S, Kathote GA, Jakkamsetti V, Kallem RR, Putnam WC, Park JY, Shinnar S, Pascual JM Scientific reports 2023 Dec 13 Leigh syndrome global patient registry: uniting patients and researchers worldwide Zilber S, Woleben K, Johnson SC, de Souza CF, Boyce D, Freiert K, Boggs C, Messahel S, Burnworth MJ, Afolabi TM, Kayani S Orphanet Journal of Rare Diseases 2023 Dec 18 Natural History of SURF1 Deficiency: A Retrospective Chart Review Khan TR, Leprince I, Messahel S, Minassian BA, Kayani S Pediatric Neurology 2023 Mar 140 40-46 Results 1-10 of 20 1 2 Next Last Books Featured Books A Neurologic and Psychiatric Gene Map. In Rosenberg R, Pascual J, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th ed. Kayani SN, Wilson KS, Rosenberg RN. (2014). Academic Press. Professional Associations/Affiliations American Academy of Neurology (2015) Child Neurology Society (2015)
