Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
Journal of Korean Medical Science
;
: 951-953, 2011.
Article
Dans Anglais
| WPRIM
| ID: wpr-31550
ABSTRACT
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early childhood. Here, we report a case of Menkes disease presented by intractable seizures and infantile spasms. A 3-month-old male infant had visited our pediatric clinic for lethargy, floppy muscle tone, poor oral intake and partial seizures. His hair was kinky, brown colored and fragile. Partial seizures became more frequent, generalized and intractable to antiseizure medications. An EEG showed frequent posteriorly dominant generalized spikes that were consistent with a generalized seizure. From a genetic analysis, a c.2743C>T (p.Gln915X) mutation was detected and diagnosed as Menkes disease. The mutation is a novel one that has not been previously reported as a cause of Menkes disease.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Crises épileptiques
/
Spasmes infantiles
/
Imagerie par résonance magnétique
/
Analyse de séquence d'ADN
/
Adenosine triphosphatases
/
Transporteurs de cations
/
Asiatiques
/
République de Corée
/
Maladie de Menkès
/
Mutation
Type d'étude:
Etude diagnostique
/
Étude pronostique
Limites du sujet:
Humains
/
Bébé
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2011
Type:
Article
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