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

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

Notes

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

None.

References

  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.CrossRefPubMedGoogle 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.CrossRefPubMedPubMedCentralGoogle 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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