The implications of hyperekplexia on children’s quality of life: a report on two cases

The cases were compared with information obtained through a bibliographical review. Both patients presented several symptoms associated with hyperekplexia, including neurological symptoms such as increased startle response, convulsions, and hypertonia, which were alleviated with appropriate treatment. So far, combining multidisciplinary assistance with drug treatment, particularly anxiolytics and anticonvulsants, with clonazepam being the most used, has significantly contributed to both patients' improved quality of life. However, physical symptoms, such as hip dislocation and clubfoot, require future surgical intervention.

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Publication Details

Journal
Revista Paulista de Pediatria
Published
2025-01-01
DOI
https://doi.org/10.1590/1984-0462/2025/43/2024189
Primary Topic
Epilepsy research and treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

The implications of hyperekplexia on children’s quality of life: a report on two cases

L Juliano, Cristóvão Araripe Marinho, João Mattos, Rodrigo Rocha de Souza et al.
Revista Paulista de Pediatria
Epilepsy research and treatment
article

The implications of hyperekplexia on children’s quality of life: a report on two cases

L Juliano, Cristóvão Araripe Marinho, João Mattos, Rodrigo Rocha de Souza, Beatriz Salimon Carlos dos Santos
article en

Abstract

The cases were compared with information obtained through a bibliographical review. Both patients presented several symptoms associated with hyperekplexia, including neurological symptoms such as increased startle response, convulsions, and hypertonia, which were alleviated with appropriate treatment. So far, combining multidisciplinary assistance with drug treatment, particularly anxiolytics and anticonvulsants, with clonazepam being the most used, has significantly contributed to both patients' improved quality of life. However, physical symptoms, such as hip dislocation and clubfoot, require future surgical intervention.

Revista Paulista de PediatriaVol. 43
Solução Ambiental Assessoria e Consultoria (BR)
Good health and well-being
Openalex Percentile: Top 93%
Epilepsy research and treatment
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