Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1.
Epileptic Disord
; 16(3): 354-7, 2014 Sep.
Article
em En
| MEDLINE
| ID: mdl-25036534
ABSTRACT
Hyperekplexia is a rare neurogenetic disorder, frequently misdiagnosed in neonates with a risk of apnoea, asphyxia, and sudden infant death. We present video sequences of a male newborn, admitted on the second day of life to the neonatal intensive care unit, due to tonic-clonic movements. Following clinical and paraclinical investigations, a final diagnosis of hyperekplexia was made. Genetic analysis revealed a homozygous mutation in GLRA1 resulting in a R392H amino acid substitution and altered receptor dynamics, as indicated from previous work. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam which is a strong clinical feature of GLRA1-mediated hyperekplexia. [Published with video sequences].
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Reflexo de Sobressalto
/
Rigidez Muscular Espasmódica
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Receptores de Glicina
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article