Clinical manifestation and genetic analysis of a child with early infantile epileptic encephalopathy 42 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 127-130, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879537
ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic characterization of a child with early infantile epileptic encephalopathy.@*METHODS@#The proband was subjected to history taking and was diagnosed based on his clinical manifestation, magnetic resonance imaging (MRI) and whole exome sequencing (WES). Sanger sequencing was carried out to determine the origin of pathogenic variant.@*RESULTS@#The proband unconsciously tilts his head to one side with squint, which revealed an abnormal discharge. MRI indicated suspicious abnormal signal shadow in the left posterior frontal cortex in addition with inflammation signs in the right maxillary sinus and ethmoid sinus. WES revealed that the proband has carried a heterozygous c.5789G>A variant in the CACNAIA gene. The result of Sanger sequencing was in keeping with that of WES. Neither of his parents has carried the same variant.@*CONCLUSION@#The heterozygous c.5789G>A variant of the CACNAIA gene probably underlay the early infantile epileptic encephalopathy 42 in the proband, which has a de novo origin.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Espasmos Infantis
/
Canais de Cálcio
/
Testes Genéticos
/
Sequenciamento do Exoma
/
Heterozigoto
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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