Cargando…

Hyperekplexia: A Treatable Seizure Mimicker in Infants

Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in...

Descripción completa

Detalles Bibliográficos
Autores principales: Dudipala, Sai Chandar, Reddy, Raja Vijendra, Shankar, Roop
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208903/
https://www.ncbi.nlm.nih.gov/pubmed/37252475
http://dx.doi.org/10.7759/cureus.38082
_version_ 1785046767648112640
author Dudipala, Sai Chandar
Reddy, Raja Vijendra
Shankar, Roop
author_facet Dudipala, Sai Chandar
Reddy, Raja Vijendra
Shankar, Roop
author_sort Dudipala, Sai Chandar
collection PubMed
description Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in a number of different genes such as GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. HK is frequently misdiagnosed as a form of epilepsy and is advised for prolonged antiseizure medications. Here, we report a two-month-old female child with HK, who was treated for epilepsy. Next-generation sequencing revealed a pathogenic homozygous missense mutation of variant c.1259C>A in exon 9 of the GLRA1 gene that was compatible with the diagnosis of hyperekplexia-1. 
format Online
Article
Text
id pubmed-10208903
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-102089032023-05-26 Hyperekplexia: A Treatable Seizure Mimicker in Infants Dudipala, Sai Chandar Reddy, Raja Vijendra Shankar, Roop Cureus Genetics Hyperekplexia (HK) or startle disease is an uncommon, early infantile onset, potentially treatable neurogenetic disorder. It is characterized by an exaggerated startle reflex in response to tactile or acoustic or visual stimuli followed by generalized hypertonia. It is caused by genetic mutations in a number of different genes such as GLRA1, SLC6A5, GLRB, GPHN, and ARHGEF9. HK is frequently misdiagnosed as a form of epilepsy and is advised for prolonged antiseizure medications. Here, we report a two-month-old female child with HK, who was treated for epilepsy. Next-generation sequencing revealed a pathogenic homozygous missense mutation of variant c.1259C>A in exon 9 of the GLRA1 gene that was compatible with the diagnosis of hyperekplexia-1.  Cureus 2023-04-24 /pmc/articles/PMC10208903/ /pubmed/37252475 http://dx.doi.org/10.7759/cureus.38082 Text en Copyright © 2023, Dudipala et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Dudipala, Sai Chandar
Reddy, Raja Vijendra
Shankar, Roop
Hyperekplexia: A Treatable Seizure Mimicker in Infants
title Hyperekplexia: A Treatable Seizure Mimicker in Infants
title_full Hyperekplexia: A Treatable Seizure Mimicker in Infants
title_fullStr Hyperekplexia: A Treatable Seizure Mimicker in Infants
title_full_unstemmed Hyperekplexia: A Treatable Seizure Mimicker in Infants
title_short Hyperekplexia: A Treatable Seizure Mimicker in Infants
title_sort hyperekplexia: a treatable seizure mimicker in infants
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10208903/
https://www.ncbi.nlm.nih.gov/pubmed/37252475
http://dx.doi.org/10.7759/cureus.38082
work_keys_str_mv AT dudipalasaichandar hyperekplexiaatreatableseizuremimickerininfants
AT reddyrajavijendra hyperekplexiaatreatableseizuremimickerininfants
AT shankarroop hyperekplexiaatreatableseizuremimickerininfants