Paroxysmal kinesigenic dyskinesia in a patient with a PRRT2 mutation and centrotemporal spike discharges on electroencephalogram: case report of a 10-year-old girl / 소아과
Korean Journal of Pediatrics
;
: S157-S160, 2016.
Article
Dans Anglais
| WPRIM
| ID: wpr-118685
ABSTRACT
Coexistence of paroxysmal kinesigenic dyskinesia (PKD) with benign infantile convulsion (BIC) and centrotemporal spikes (CTS) is very rare. A 10-year-old girl presented with a 3-year history of frequent attacks of staggering while laughing and of suddenly collapsing while walking. Interictal electroencephalogram (EEG) revealed bilateral CTS, but no changes in EEG were observed during movement. The patient's medical history showed afebrile seizures 6 months after birth, while the family history showed that the patient's mother and relatives on the mother's side had similar dyskinesia. Genetic testing demonstrated that the patient had a heterozygous mutation, c.649_650insC, in the PRRT2 gene. To our knowledge, this constitutes only the second report of a patient with PKD, BIC, CTS, and a PRRT2 mutation.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Crises épileptiques
/
Dépistage génétique
/
Marche à pied
/
Dyskinésies
/
Parturition
/
Électroencéphalographie
/
Épilepsie
/
Mères
Type d'étude:
Étude pronostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2016
Type:
Article
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