Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy

被引：14

作者：

Amadori, Elisabetta ^{[1
,2
]}

Pellino, Giuditta ^{[3
,4
]}

Bansal, Lalit ^{[5
]}

Mazzone, Serena ^{[6
]}

Moller, Rikke S. ^{[7
,8
]}

Rubboli, Guido ^{[9
,10
]}

Striano, Pasquale ^{[1
,2
]}

Russo, Angelo ^{[11
]}

机构：

[1] IRCCS G Gaslini Inst, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy

[2] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet Maternal &, Genoa, Italy

[3] Azienda USL Ferrara St Anna Univ Hosp Ferrara, Pediat Unit, Ferrara, Italy

[4] Univ Ferrara, Dept Neurosci & Rehabil, Ferrara, Italy

[5] Univ Missouri Kansas City, Div Neurol, Childrens Mercy Hosp, Kansas City, MO USA

[6] Ist Sci Neurol Bologna, IRCCS, Bologna, Italy

[7] Danish Epilepsy Ctr, Dept Genet & Personalized Med, Dianalund, Denmark

[8] Univ Southern Denmark, Inst Reg Hlth Serv Res, Odense, Denmark

[9] Danish Epilepsy Ctr, Dept Neurol, European Reference Network EpiCARE, Dianalund, Denmark

[10] Univ Copenhagen, Copenhagen, Denmark

[11] UOC Neuropsichiatria & Pediat, Ist Sci Neurol Bologna, IRCCS, Bologna, Italy

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2022年 / 65卷 / 04期

关键词：

Episodic ataxia; Epilepsy; Paroxysmal neurological disorders; POTASSIUM CHANNEL GENE; TYPE-1 DEFICIENCY SYNDROME; DE-NOVO MUTATIONS; CLINICAL SPECTRUM; GLUT1; DEFICIENCY; CALCIUM-CHANNEL; NEONATAL EPILEPSY; CA2+ CHANNEL; CACNA1A; PRRT2;

D O I：

10.1016/j.ejmg.2022.104450

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective: This review article focuses on clinical and genetic features of paroxysmal neurological disorders featuring episodic ataxia (EA) and epilepsy and help clinicians recognize, diagnose, and treat patients with coexisting EA and epilepsy. It also provides an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.Methods: Based on a literature review on Pubmed database, a list of genes linked to paroxysmal neurological disorders featuring EA and epilepsy were compiled. Online Mendelian Inheritance in Man (OMIM) was used to identify further reports relevant to each gene. Results: Among the various forms of EAs, only EA1 (KCNA1), EA2 (CACNA1A), EA5 (CACNB4), EA6 (SLC1A3), and EA9 (SCN2A) phenotypes with associated epilepsy have been described. Next-generation sequencing (NGS) has helped in the identification of other genes (e.g.: KCNA2, ATP1A3, SLC2A1, PRRT2) which have shown an overlapping phenotype with EA and epilepsy.Conclusion: Overlapping clinical features between EA and epilepsy may hinder an accurate classification, and complex genotype-phenotype correlation may often lead to misdiagnosis. NGS has increased the awareness of common genetic etiologies for these conditions. In the future, extensive genetic and phenotypic characterizations can help us to elucidate the boundaries of a wide phenotypic spectrum. These insights may help develop new precision therapies in paroxysmal neurological disorders featuring EA and epilepsy.

引用

页数：14

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