The Indian Journal of Pediatrics

, Volume 85, Issue 12, pp 1134–1135 | Cite as

Tay-Sachs Disease Presenting as Refractory Epilepsy with Autistic Regression Secondary to a Novel Mutation in HEXA Gene

  • Vykuntaraju K. GowdaEmail author
  • Varunvenkat M. Srinivasan
  • Maya Bhat
  • Asha Benakappa
Scientific Letter


Authors’ Contributions

VKG: Revised and approved the manuscript for important intellectual content and will act as guarantor of the paper; VMS: Diagnosis, management and writing the manuscript; MB: Conducted laboratory tests and analyzed the data; AB: Supervision of the work and revision of manuscript.

Compliance with Ethical Standards

Conflict of Interest



  1. 1.
    Tanaka A, Fujimaru M, Choeh K, Isshiki G. Novel mutations, including the second most common in Japan, in the B-hexosaminidase a subunit gene, a simple screening of Japanese patients with Tay-Sachs disease. J Hum Genet. 1999;44:91–5.CrossRefGoogle Scholar
  2. 2.
    Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. The human gene mutation database: providing a comprehensive central mutation data base for molecular diagnostics and personalized genomics. Hum Genomics. 2009;4:69–72.CrossRefGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia
  3. 3.Department of PediatricsIndira Gandhi Institute of Child HealthBangaloreIndia
  4. 4.Department of Neuro-radiologyNational Institute of Mental Health and Neurosciences (NIMHANS)BangaloreIndia

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