The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss-of-function mutations.
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作者：
Holder JL Jr;Quach MM
在智障人群中，自闭症与癫痫的重合率为27%。SHANK3基因功能突变丧失的个体有智力残疾、自闭症和癫痫。癫痫发作符号学和脑电图（EEG）异常的频谱从未被详细调查过。最近有报道称，大约2%的中度至重度智力残疾患者和1%的自闭症患者存在SHANK3突变，因此确定癫痫发作的频谱和电图异常对于医生为SHANK3突变患者的家属提供适当的咨询至关重要。对在蓝鸟圆环儿童神经病学诊所接受治疗的所有个体进行回顾性图表回顾，这些个体被鉴定为包含SHANK3的染色体22q13微缺失或通过全外显子组测序鉴定为SHANK3功能突变缺失。对于每个受试者，确定癫痫发作的存在或不存在，癫痫的符号学，频率，发病年龄和治疗效果。脑电图由委员会认证的神经生理学家检查。神经影像学由委员会认证的儿科神经放射学家和儿童神经学家进行审查。SHANK3突变个体的癫痫发作符号学、频率和严重程度有很大的差异。在我们的队列中没有发现特殊的脑电图异常，脑电图异常存在于被诊断为癫痫的个体和没有临床发作史的个体中。由于该人群中癫痫的高患病率，所有SHANK3突变个体都应进行癫痫评估。最常见的符号学是非典型失神性癫痫，由于SHANK3突变个体的共病性智力残疾，这可能具有挑战性；然而，在大多数SHANK3突变个体中，没有一致的癫痫符号学、神经影像学或脑电图发现。
The coincidence of autism with epilepsy is 27% in those individuals with intellectual disability. Individuals with loss of function mutations in SHANK3 have intellectual disability, autism and variably, epilepsy. The spectrum of seizure semiologies and electroencephalographic (EEG) abnormalities has never been investigated in detail. With the recent report that SHANK3 mutations are present in approximately two percent of individuals with moderate to severe intellectual disabilities and one percent of individuals with autism, determining the spectrum of seizure semiologies and electrographic abnormalities will be critical for medical practitioners to appropriately counsel the families of patients with SHANK3 mutations. A retrospective chart review was performed of all individuals treated at the Blue Bird Circle Clinic for Child Neurology who have been identified as having either a chromosome 22q13 microdeletion encompassing SHANK3 or a loss of function mutation in SHANK3 identified through whole exome sequencing. For each subject, the presence or absence of seizures, seizure semiology, frequency, age of onset and efficacy of therapy were determined. Electroencephalograms were reviewed by a board certified neurophysiologist. Neuroimaging was reviewed by both a board certified pediatric neuroradiologist and child neurologist. There is a wide spectrum of seizure semiologies, frequencies and severity in individuals with SHANK3 mutations. There are no specific electroencephalographic abnormalities found in our cohort, and EEG abnormalities were present in individuals diagnosed with epilepsy and those without history of a clinical seizure. All individuals with a mutation in SHANK3 should be evaluated for epilepsy due to the high prevalence of seizures in this population. The most common semiology is atypical absence seizure which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging findings or electroencephalogram findings were present in the majority of individuals with SHANK3 mutations.
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影响因子：
4.7
作者：
Boeckers, TM;Liedtke, T;Gundelfinger, ED
通讯作者：
Gundelfinger, ED
DOI：
10.1002/ajmg.c.30155
发表时间：
2007-11-15
影响因子：
3.1
作者：
Cusmano-Ozog, Kristina;Manning, Melanie A.;Hoyme, H. Eugene
通讯作者：
Hoyme, H. Eugene
影响因子：
6.2
作者：
Betancur C;Buxbaum JD
通讯作者：
Buxbaum JD
影响因子：
4
作者：
Luciani, JJ;de Mas, P;Mattei, MG
通讯作者：
Mattei, MG
影响因子：
8.8
作者：
Duffney LJ;Zhong P;Wei J;Matas E;Cheng J;Qin L;Ma K;Dietz DM;Kajiwara Y;Buxbaum JD;Yan Z
通讯作者：
Yan Z