癫痫
错义突变
肌阵挛性癫痫
儿科
医学
张力减退
脑病
癫痫综合征
肌阵挛性抽搐
发作类型
儿童失神癫痫
生物信息学
精神科
遗传学
突变
生物
基因
作者
Marina Trivisano,Marta Elena Santarone,Alessia Micalizzi,Alessandro Ferretti,Maria Lisa Dentici,Antonio Novelli,Federico Vigevano,Nicola Specchio
标识
DOI:10.1016/j.seizure.2020.08.032
摘要
PurposeGRIA3, encoding subunit 3 of glutamate ionotropic AMPA receptor, is associated with X-linked intellectual disability (ID), dysmorphic features, and non-syndromic epilepsy. We aimed to characterize electro-clinical features of patients with GRIA3 variants.MethodsWe report a patient carrying a hemizygous missense variant c.2359 G > A (p.Glu787Lys) inGRIA3 gene. Following a literature search, we also reviewed clinical, electrophysiological, radiological, and genetic features of 19 patients with GRIA3 mutations.ResultsThis 26-month-old boy had developmental delay, early onset refractory myoclonic epilepsy, and non-convulsive refractory status epilepticus. In published reports, epilepsy was in 6 of 19 patients carrying different genotypes, though epilepsy and electroencephalogram features were not completely defined. Out of the 6 patients, one presented with generalized tonic-clonic seizures, two with myoclonic and clonic events (one also presented with epileptic spasms), and one with atypical absences and myoclonic jerks. Information on type of epilepsy was unavailable for 3 cases. Epilepsy onset was early in life and there was potential tendency for myoclonic/clonic events. The epilepsy was difficult to treat and prognosis is poor. Severity of ID ranged from mild to severe and was variably associated with bipolar affective disorder and autistic spectrum disorders. Other neurological features included hypotonia, asthenic body habitus with poor muscle bulk, and hyporeflexia.ConclusionOur report expands knowledge on the electro-clinical and molecular spectrum of GRIA3 variants. Larger investigations will better define the prevalence of epilepsy, the epileptic phenotype, and syndromic features underlying GRIA3 variants.
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