Saima N Kayani

  • 47 Citations
  • 2 h-Index
20092019
If you made any changes in Pure, your changes will be visible here soon.

Fingerprint Dive into the research topics where Saima N Kayani is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 4 Similar Profiles
etiracetam Medicine & Life Sciences
Muscle Hypotonia Medicine & Life Sciences
Guanosine Medicine & Life Sciences
Progressive Myoclonic Epilepsy Medicine & Life Sciences
Medical Genetics Medicine & Life Sciences
Seizures Medicine & Life Sciences
Nervous System Medicine & Life Sciences
Names Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2009 2019

  • 47 Citations
  • 2 h-Index
  • 3 Article
  • 1 Chapter
  • 1 Comment/debate
1 Citation (Scopus)

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

Palmer, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Ahmed, H. M. J., Kandula, T., Macintosh, R., Minoche, A. E., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M., Rosenfeld, J. A., Xiao, R., Cho, M. T., Yakubu, S. F., Henderson, L. B., Guillen Sacoto, M. J. & 23 others, Begtrup, A., Hamad, M., Shinawi, M., Andrews, M. V., Jones, M. C., Lindstrom, K., Bristol, R. E., Kayani, S. N., Snyder, M., Villanueva, M. M., Schteinschnaider, A., Faivre, L., Thauvin, C., Vitobello, A., Roscioli, T., Kirk, E. P., Bye, A., Merzaban, J., Jaremko, Ł., Jaremko, M., Sachdev, R. K., Alkuraya, F. S. & Arold, S. T., Mar 7 2019, In : American Journal of Human Genetics. 104, 3, p. 542-552 11 p.

Research output: Contribution to journalArticle

Muscle Hypotonia
Progressive Myoclonic Epilepsy
Epilepsy
Co-Repressor Proteins
Poisons

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, E. E., Hong, S., Al Zahrani, F., Hashem, M. O., Aleisa, F. A., Jalal Ahmed, H. M., Kandula, T., Macintosh, R., Minoche, A. E., Puttick, C., Gayevskiy, V., Drew, A. P., Cowley, M. J., Dinger, M., Rosenfeld, J. A., Xiao, R., Cho, M. T., Yakubu, S. F., Henderson, L. B., Guillen Sacoto, M. J. & 23 others, Begtrup, A., Hamad, M., Shinawi, M., Andrews, M. V., Jones, M. C., Lindstrom, K., Bristol, R. E., Kayani, S., Snyder, M., Villanueva, M. M., Schteinschnaider, A., Faivre, L., Thauvin, C., Vitobello, A., Roscioli, T., Kirk, E. P., Bye, A., Merzaban, J., Jaremko, Ł., Jaremko, M., Sachdev, R. K., Alkuraya, F. S. & Arold, S. T., Apr 4 2019, In : American Journal of Human Genetics. 104, 4, 1 p.

Research output: Contribution to journalComment/debate

Open Access
Medical Genetics
Names
2 Citations (Scopus)

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region

Undiagnosed Diseases Network, Jan 1 2019, (Accepted/In press) In : Epilepsia.

Research output: Contribution to journalArticle

Guanosine
Movement Disorders
Muscle Hypotonia
Brain Diseases
Guanosine Triphosphate

A Neurologic Gene Map

Kayani, S. N., Wilson, K. S. & Rosenberg, R. N., Nov 13 2014, Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease: Fifth Edition. Elsevier Inc., p. 1333-1400 68 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

Nervous System
Databases
Genes
Public Sector
Genomic Structural Variation
44 Citations (Scopus)

Role of Intravenous Levetiracetam in Acute Seizure Management of Children

Kirmani, B. F., Crisp, E. D., Kayani, S. & Rajab, H., Jul 1 2009, In : Pediatric Neurology. 41, 1, p. 37-39 3 p.

Research output: Contribution to journalArticle

etiracetam
Seizures
Status Epilepticus
Lorazepam