- American Academy of Neurology (2015)
- Child Neurology Society (2015)
Biography
Saima Kayani, M.D., 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.
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 & Training
- Medical School - King Edward Medical University, Pakistan (1997-2002)
- Residency - UT Southwestern/Children's Medical Center (2012-2014), Medical Genetics
- Residency - UT Southwestern Medical Center (2009-2012), Child Neurology
- Residency - Texas A&M College of Medicine/Baylor Scott & White Medical Center - Temple (2006-2009), Pediatrics
Professional Associations & Affiliations
Books & Publications
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Books
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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.
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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.
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Publications
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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 -
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 -
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 -
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 -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW Genome Medicine 2022 Dec 14 -
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics
Rowe AA, Chen X, Nettesheim ER, Issioui Y, Dong T, Hu Y, Messahel S, Kayani SN, Gray SJ, Wert KJ EBioMedicine 2022 Nov 85 -
ECHS1 deficiency and its biochemical and clinical phenotype
Ozlu C, Chelliah P, Dahshi H, Horton DK, Edgar VB, Messahel S, Kayani S American Journal of Medical Genetics, Part A 2022 Oct 188 2908-2919 -
Congenital disorders of glycosylation as an unusual cause of antithrombin deficiency and elevated thrombin generation
Hasan R, Kayani S, Zia A Pediatric Blood and Cancer 2020 Feb 67 -
A neurologic gene map
Kayani SN, Wilson KS, Rosenberg RN 2020 Jan 701-791 -
Erratum: De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (The American Journal of Human Genetics (2019) 104(3) (542–552), (S0002929719300138), (10.1016/j.ajhg.2019.01.013))
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Jalal Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST American Journal of Human Genetics 2019 Apr 104 778 -
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
Palmer EE, Hong S, Al Zahrani F, Hashem MO, Aleisa FA, Ahmed HM, Kandula T, Macintosh R, Minoche AE, Puttick C, Gayevskiy V, Drew AP, Cowley MJ, Dinger M, Rosenfeld JA, Xiao R, Cho MT, Yakubu SF, Henderson LB, Guillen Sacoto MJ, Begtrup A, Hamad M, Shinawi M, Andrews MV, Jones MC, Lindstrom K, Bristol RE, Kayani S, Snyder M, Villanueva MM, Schteinschnaider A, Faivre L, Thauvin C, Vitobello A, Roscioli T, Kirk EP, Bye A, Merzaban J, Jaremko Ł, Jaremko M, Sachdev RK, Alkuraya FS, Arold ST American Journal of Human Genetics 2019 Mar 104 542-552 -
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
Author Collaboration UD, Kelly M, Park M, Mihalek I, Rochtus A, Gramm M, Pérez-Palma E, Axeen ET, Hung CY, Olson H, Swanson L, Anselm I, Briere LC, High FA, Sweetser DA, Kayani S, Snyder M, Calvert S, Scheffer IE, Yang E, Waugh JL, Lal D, Bodamer O, Poduri A Epilepsia 2019 Mar 60 406-418 -
A Neurologic Gene Map
Kayani SN, Wilson KS, Rosenberg RN 2014 Nov 1333-1400 -
Role of Intravenous Levetiracetam in Acute Seizure Management of Children
Kirmani BF, Crisp ED, Kayani S, Rajab H Pediatric Neurology 2009 Jul 41 37-39
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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
Research
- Triheptanoin in glucose trans 1-D mice
- The role of intravenous levetiracetam in management of status epilepticus
Results: 1 Locations
Children's Medical Center of Dallas
1935 Medical District DriveDallas, Texas 75235 214-730-5437 Directions to Children's Medical Center of Dallas at Children's Medical Center of Dallas, Dallas