PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
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作者：
Smith L;Singhal N;El Achkar CM;Truglio G;Rosen Sheidley B;Sullivan J;Poduri A
描述与PCDH 19相关癫痫（也称为“女性局限性癫痫”）相关的特征。我们分析了参加PCDH 19登记研究的参与者的数据，重点是与睡眠相关的发育、神经行为和睡眠相关的特征。我们根据以前的报告、人群数据库和计算机模拟预测评估了致病性变异，并纳入了具有致病性或潜在致病性变异的个体。我们对病历进行了回顾性分析，并进行了有针对性的问卷调查，以描述先证者和基因型阳性家族成员当前或过去的特征。我们纳入了38例PCDH 19致病性或潜在致病性变异的个体：21例新发，5例母系遗传，7例父系遗传，5例未知。所有38例患者均患有癫痫;癫痫发作负荷各不相同，但存在典型的癫痫发作聚集特征和与发热相关性。30人患有智力残疾（ID），报告的严重程度范围很广;值得注意的是，8/38（22%）具有平均智力。行为和睡眠失调是突出的，分别为29/38（76%）和20/38（53%）。22/38（58%）存在自闭症特征，其中12人被正式诊断为自闭症谱系障碍（ASD）。我们有额外的数据，从5个基因型阳性的母亲，所有的平均智力和3个癫痫和1个基因型阳性的父亲。
To characterize the features associated with PCDH19-related epilepsy, also known as “female-limited epilepsy.” We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports, population databases, and in silico predictions, and included individuals with pathogenic or potentially pathogenic variants. We performed a retrospective analysis of medical records and administered a targeted questionnaire to characterize current or past features in probands and genotype-positive family members. We included 38 individuals with pathogenic or potentially pathogenic variants in PCDH19: 21 de novo, 5 maternally inherited, 7 paternally inherited, and 5 unknown. All 38 had epilepsy; seizure burden varied, but typical features of clustering of seizures and association with fever were present. Thirty individuals had intellectual disability (ID), with a wide range of severity reported; notably, 8/38 (22%) had average intellect. Behavioral and sleep dysregulation were prominent, in 29/38 (76%) and 20/38 (53%), respectively. Autistic features were present in 22/38 (58%), of whom 12 had a formal diagnosis of autism spectrum disorder (ASD). We had additional data from 5 genotype-positive mothers, all with average intellect and 3 with epilepsy and from 1 genotype-positive father.
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影响因子：
2.2
作者：
de Lange IM;Rump P;Neuteboom RF;Augustijn PB;Hodges K;Kistemaker AI;Brouwer OF;Mancini GMS;Newman HA;Vos YJ;Helbig KL;Peeters-Scholte C;Kriek M;Knoers NV;Lindhout D;Koeleman BPC;van Kempen MJA;Brilstra EH
通讯作者：
Brilstra EH
影响因子：
4
作者：
Trump N;McTague A;Brittain H;Papandreou A;Meyer E;Ngoh A;Palmer R;Morrogh D;Boustred C;Hurst JA;Jenkins L;Kurian MA;Scott RH
通讯作者：
Scott RH
影响因子：
2.2
作者：
van Harssel, J. J. T.;Weckhuysen, S.;Brilstra, E. H.
通讯作者：
Brilstra, E. H.
影响因子：
3
作者：
Lotte, Jan;Bast, Thomas;Kluger, Gerhard
通讯作者：
Kluger, Gerhard
影响因子：
2.2
作者：
Trivisano, Marina;Pietrafusa, Nicola;Specchio, Nicola
通讯作者：
Specchio, Nicola