INFANTILE CONVULSIONS AND CHOREOATHETOSIS (ICCA) SYNDROME WITH PRRT2 MUTATION-A CASE REPORT

Authors

  • Velusamy S Government Stanley medical College and hospital, Chennai
  • Sathish Kumar M Government Stanley medical College and hospital, Chennai
  • Dhivya K Government Stanley medical College and hospital, Chennai

DOI:

https://doi.org/10.32677/ijch.v9i2.3311

Keywords:

Infantile convulsions, Paroxysmal dyskinesia Infantile convulsions PRRT2 ICCA, PRRT2

Abstract

Infantile convulsions and choreoathetosis (ICCA) syndrome is a rare autosomal dominant disorder characterised by convulsions during infancy with paroxysmal choreoathetosis at a later age. Mutations in proline rich transmembrane protein 2 (PRRT2) gene have been identified as a cause for ICCA syndrome. Carbamazepine or phenytoin is effective in preventing seizure recurrence and controlling dyskinesias. Here, we report a child with ICCA syndrome with homozygous mutation in PRRT2 gene.

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Author Biographies

  • Velusamy S, Government Stanley medical College and hospital, Chennai

    Department of Neurology

  • Sathish Kumar M, Government Stanley medical College and hospital, Chennai

    Department of Neurology

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Published

2022-02-28

Issue

Vol. 9 No. 2 (2022): February

Section

Case Reports

License

Copyright (c) 2022 Velusamy S, Sathish Kumar M, Dhivya K

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to Cite

S, V. ., Kumar M, S. ., & K, D. . (2022). INFANTILE CONVULSIONS AND CHOREOATHETOSIS (ICCA) SYNDROME WITH PRRT2 MUTATION-A CASE REPORT . Indian Journal of Child Health, 9(2), 26-27. https://doi.org/10.32677/ijch.v9i2.3311