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find Author "CHENG Miaomiao" 1 results
  • The genotype and phenotype of CACNA1A variants related developmental and epileptic encephalopathy

    ObjectiveTo analyze the genotype and clinical features of children with epilepsy associated with CACNA1A variants. MethodsThe genotype, phenotype and neuroimaging features of 27 patients with CACNA1A variants in the pediatrics department of Peking University First Hospital from September 2013 to February 2022 were analyzed. ResultsThere were 9 males and 18 females, whose age ranged from 6 months to 19 years old (medium: 4 years old and 3 months). There were 22 missense variants, three nonsense variants and two frameshift variants. 25 variants were de novo. Age at seizure onset ranged from 1 day to 8 years old and 6 months (medium: 14 months). Multiple seizure types were observed, including focal seizures in 20 patients, generalized tonic–clonic seizures (GTCS) in 7 patients, absence seizures in 5 patients, myoclonic seizures in 3 patients, epileptic spasms and tonic seizures in 1 patient respectively. 16 patients had status epilepticus, including focal motor status epilepticus in 14 patients and generalized motor status epilepticus occurred in two patients. Two patients had acute encephalopathy. All 27 patients showed developmental delay. Interictal electroencephalogram showed generalized discharges in 8 patients, multi-focal discharges in 4 patients and focal discharges in 11 patients. Unilateral cortical atrophy occurred in 5 patients after focal motor status epilepticus. Two patients had bilateral cerebral atrophy after acute encephalopathy. Cerebellar atrophy in 2 patients. The age of last follow-up ranged from one year old to 17 years old and 3 months. Six patients were seizure-free , whereas 21 still had seizures. ConclusionThe seizure onset age of patients with CACNA1A variants usually began in infancy. The common seizure types include focal seizures, GTCS and absence seizures. Seizures are prone to status epilepticus, mainly focal motor status epilepticus. Patients usually had developmental delay. Unilateral cortical atrophy may occur after focal motor status epilepticus. Epilepsy associated with CACNA1A variants is usually refractory.

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