RESUMO
Objective:To investigate the clinical features, gene mutation and follow-up outcome of children with paroxysmal kinesigenic dyskinesia(PKD).Methods:Clinical data was collected at Beijing Tiantan Hospital Affiliated to Capital Medical University from November 2018 to November 2019.In total, seven children with PKD were recruited, and peripheral blood samples for gene study were collected from six patients and their parents.Mutation analysis of PRRT2 gene was performed by PCR sequencing in children and by Sanger sequencing in patients.Results:Of the seven patients, four were male and three were female, and the median age of onset was 11 years and 6 months, ranging from 5 to 14 years.Among them, two patients were family cases and the other five patients were sporadic cases.The presentation were abnormal involuntary movements provoked by sudden movements, without loss of consciousness.Five patients exhibited dystonia and two patients had dystonia and choreoathetosis.The duration of the attacks lasted for a few seconds to 40 seconds.The frequency ranged from 5 to 15 times per day.PRRT2 mutations, c.649_650insC(P.R217PfsX8), were found in two patients with PKD families and three sporadic PKD cases.Conclusion:The onset age of PKD is pre-school or school age.The attacks manifest as dystonia or mixed with dystonia and choreoathetosis.PRRT2 is the main pathogenic gene of PKD and mutation c. 649_650insC is the hotspot mutation.Low-dose Carbamazepine has good effects.
RESUMO
@#Objective To explore the susceptibility of epilepsy in rat with cerebral trauma. Methods An impact-acceleration head injury model was established with rats. After trauma, the electroencephalograph was recorded. Epileptic model wad established by injecting pentylenetetrazol (PTZ) intraperitoneally and the dosage of PTZ was recorded. Results The wave of delta and theta increased after trauma, alpha and beta decreased and there was significant difference among the power of delta, theta and alpha (P＜0.05). The dosage of rats with cerebral trauma was less than that in normal rats (P＜0.05). Conclusion The susceptibility of epilepsy in rat with cerebral trauma increases.