PDF(Pubmed)
Abstract：
UNASSIGNED: Nearly 40% of pediatric epilepsies have a genetic basis. There is significant phenotypic and genotypic heterogeneity, especially in epilepsy syndromes caused by sodium channelopathies. Sodium channel subunit 1A (SCN1A)-related epilepsy represents the archetypical channel-associated gene that has been linked to a wide spectrum of epilepsies of varying severity. Subsequently, other sodium channels have also been implicated in epilepsy and other neurodevelopmental disorders. This study aims to describe the phenotypes in children with sodium channelopathies from a center in Southern India.
UNASSIGNED: This is a retrospective, descriptive, and single-center study. Out of 112 children presenting with epilepsy who underwent genetic testing between 2017 and 2021, 23 probands (M: F = 12:11) were identified to have clinically significant sodium channel mutations. Clinical presentation, electroencephalography, and imaging features of these patients were recorded. The utility of genetic test results (e.g., in planning another child, withdrawal of medications, or change in treatment) was also recorded.
UNASSIGNED: Age at onset of seizures ranged from day 4 of life to 3.5 years. Clinical epilepsy syndromes included generalized epilepsy with febrile seizures plus (n = 3), Dravet syndrome (n = 5), early infantile epileptic encephalopathy (n = 7), drug-resistant epilepsy (n = 5), and epilepsy with associated movement disorders (n = 3). The most common type of seizure was focal with impaired awareness (n = 18, 78.2%), followed by myoclonic jerks (n = 8, 34.78%), epileptic spasms (n = 7, 30.4%), bilateral tonic-clonic seizures/generalized tonic-clonic seizures (n = 3, 13%), and atonic seizures (n = 5, 23.8%). In addition to epilepsy, other phenotypic features that were discerned were microcephaly (n = 1), cerebellar ataxia (n = 2), and chorea and dystonia (n = 1).
UNASSIGNED: Sodium channelopathies may present with seizure phenotypes that vary in severity. In addition to epilepsy, patients may also have other clinical features such as movement disorders. Early clinical diagnosis may aid in tailoring treatment for the given patient.
UNASSIGNED: This is a retrospective, descriptive, and single-center study. Out of 112 children presenting with epilepsy who underwent genetic testing between 2017 and 2021, 23 probands (M: F = 12:11) were identified to have clinically significant sodium channel mutations. Clinical presentation, electroencephalography, and imaging features of these patients were recorded. The utility of genetic test results (e.g., in planning another child, withdrawal of medications, or change in treatment) was also recorded.
UNASSIGNED: Age at onset of seizures ranged from day 4 of life to 3.5 years. Clinical epilepsy syndromes included generalized epilepsy with febrile seizures plus (n = 3), Dravet syndrome (n = 5), early infantile epileptic encephalopathy (n = 7), drug-resistant epilepsy (n = 5), and epilepsy with associated movement disorders (n = 3). The most common type of seizure was focal with impaired awareness (n = 18, 78.2%), followed by myoclonic jerks (n = 8, 34.78%), epileptic spasms (n = 7, 30.4%), bilateral tonic-clonic seizures/generalized tonic-clonic seizures (n = 3, 13%), and atonic seizures (n = 5, 23.8%). In addition to epilepsy, other phenotypic features that were discerned were microcephaly (n = 1), cerebellar ataxia (n = 2), and chorea and dystonia (n = 1).
UNASSIGNED: Sodium channelopathies may present with seizure phenotypes that vary in severity. In addition to epilepsy, patients may also have other clinical features such as movement disorders. Early clinical diagnosis may aid in tailoring treatment for the given patient.
摘要：
■近40％的小儿癫痫具有遗传基础。有显著的表型和基因型异质性，特别是在钠通道病引起的癫痫综合征中。钠通道亚基1A（SCN1A）相关的癫痫代表了典型的通道相关基因，该基因与不同严重程度的广泛癫痫有关。随后，其他钠通道也与癫痫和其他神经发育障碍有关。这项研究旨在描述印度南部一个中心的钠通道病儿童的表型。
■这是一个回顾，描述性,描述性和单中心研究。在2017年至2021年期间接受基因检测的112名癫痫患儿中，有23名先证者(M:F=12:11)被鉴定为具有临床显著的钠通道突变。临床表现,脑电图,并记录这些患者的影像学特征。基因测试结果的效用(例如，在计划另一个孩子时，停药,或治疗变化）也被记录。
■癫痫发作的年龄从生命的第4天到3.5岁不等。临床癫痫综合征包括全身性癫痫伴高热惊厥（n=3），德拉韦综合征（n=5），早期婴儿癫痫性脑病（n=7），耐药癫痫（n=5），和伴有运动障碍的癫痫（n=3）。最常见的癫痫发作类型是意识受损的局灶性癫痫发作（n=18，78.2％），其次是肌阵挛性抽搐(n=8，34.78%)，癫痫性痉挛（n=7，30.4%），双侧强直-阵挛性癫痫发作/全身性强直-阵挛性癫痫发作（n=3，13％），和失超性癫痫发作（n=5，23.8%）。除了癫痫,发现的其他表型特征是小头畸形（n=1），小脑共济失调（n=2），和舞蹈症和肌张力障碍（n=1）。
■钠通道病可能表现为严重程度不同的癫痫发作表型。除了癫痫,患者还可能有其他临床特征，如运动障碍。早期临床诊断可能有助于为给定患者定制治疗。
■这是一个回顾，描述性,描述性和单中心研究。在2017年至2021年期间接受基因检测的112名癫痫患儿中，有23名先证者(M:F=12:11)被鉴定为具有临床显著的钠通道突变。临床表现,脑电图,并记录这些患者的影像学特征。基因测试结果的效用(例如，在计划另一个孩子时，停药,或治疗变化）也被记录。
■癫痫发作的年龄从生命的第4天到3.5岁不等。临床癫痫综合征包括全身性癫痫伴高热惊厥（n=3），德拉韦综合征（n=5），早期婴儿癫痫性脑病（n=7），耐药癫痫（n=5），和伴有运动障碍的癫痫（n=3）。最常见的癫痫发作类型是意识受损的局灶性癫痫发作（n=18，78.2％），其次是肌阵挛性抽搐(n=8，34.78%)，癫痫性痉挛（n=7，30.4%），双侧强直-阵挛性癫痫发作/全身性强直-阵挛性癫痫发作（n=3，13％），和失超性癫痫发作（n=5，23.8%）。除了癫痫,发现的其他表型特征是小头畸形（n=1），小脑共济失调（n=2），和舞蹈症和肌张力障碍（n=1）。
■钠通道病可能表现为严重程度不同的癫痫发作表型。除了癫痫,患者还可能有其他临床特征，如运动障碍。早期临床诊断可能有助于为给定患者定制治疗。
