Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

Chong, Pin Fee; Saitsu, Hirotomo; Sakai, Yasunari; Imagi, Toru; Nakamura, Ryôkô; Matsukura, Masaru; Matsumoto, Naomichi; Kira, Ryutaro

doi:10.1016/j.seizure.2018.06.012

Cited by 10 publications

(10 citation statements)

References 4 publications

(7 reference statements)

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“…A further issue to clarify is the cognitive/intellectual disability and the autism spectrum disorder (ASD) often associated to (but also preceding the onset of) ISs. Deletions of SCN2A and SCN3A genes were found in a young boy with autistic spectrum disorder and ISs [96]. These [96], and other findings (reviewed [15,16]) seem to support the hypothesis of a genetic (predisposing) background leading at the same time to the appearance of IS and the cooccurrence of a mixed cognitive/behavioral defect, including the intellectual disability and the autism spectrum phenotype.…”

Section: Pathogenesismentioning

confidence: 51%

West syndrome: a comprehensive review

et al. 2020

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Since its first clinical description (on his son) by William James West (1793-1848) in 1841, and the definition of the classical triad of (1) infantile spasms; (2) hypsarrhythmia, and (3) developmental arrest or regression as "West syndrome", new and relevant advances have been recorded in this uncommon disorder. New approaches include terminology of clinical spasms (e.g., infantile (IS) vs. epileptic spasms (ES)), variety of clinical and electroencephalographic (EEG) features (e.g., typical ictal phenomena without EEG abnormalities), burden of developmental delay, spectrum of associated genetic abnormalities, pathogenesis, treatment options, and related outcome and prognosis. Aside the classical manifestations, IS or ES may present with atypical electroclinical phenotypes (e.g., subtle spasms; modified hypsarrhythmia) and may have their onset outside infancy. An increasing number of genes, proteins, and signaling pathways play crucial roles in the pathogenesis. This condition is currently regarded as a spectrum of disorders: the so-called infantile spasm syndrome (ISs), in association with other causal factors, including structural, infectious, metabolic, syndromic, and immunologic events, all acting on a genetic predisposing background. Hormonal therapy and ketogenic diet are widely used also in combination with (classical and recent) pharmacological drugs. Biologically targeted and gene therapies are increasingly studied. The present narrative review searched in seven electronic databases (primary MeSH terms/keywords included West syndrome, infantile spasms and infantile spasms syndrome and were coupled to 25 secondary clinical, EEG, therapeutic, outcomes, and associated conditions terms) including MEDLINE, Embase, Cochrane Central, Web of Sciences, Pubmed, Scopus, and OMIM to highlight the past knowledge and more recent advances.

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Section: Pathogenesismentioning

confidence: 51%

West syndrome: a comprehensive review

et al. 2020

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“…Table 1 summarizes the patients reported to have EIEE due to either heterozygous or de novo mutations within the SCN2A gene. 7,12…”

Section: Discussionmentioning

confidence: 99%

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

AlSaif

Umair

Alfadhel

2019

J Cent Nerv Syst Dis

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The voltage-gated sodium channel neuronal type 2 alpha subunit (Na v α1.2) encoded by the SCN2A gene causes early infantile epileptic encephalopathy (EIEE) inherited in an autosomal dominant manner. Clinically, it has variable presentations, ranging from benign familial infantile seizures (BFIS) to severe EIEE. Diagnosis is achieved through molecular DNA testing of the SCN2A gene. Herein, we report on a 30-month-old Saudi girl who presented on the fourth day of life with EIEE, normal brain magnetic resonance imaging (MRI), normal electroencephalography (EEG), and well-controlled seizures. Genetic investigation revealed a novel homozygous missense mutation (c.5242A > G; p.Asn1748Asp) in the SCN2A gene (NM_001040142.1). This is the first reported autosomal recessive inheritance of a disease allele in the SCN2A and therefore expands the molecular and inheritance spectrum of the SCN2A gene defects.

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“…A causative de novo deletion mutations in the 2q24.3 region was reported in a patient with West syndrome who also manifested symptoms of autism. This deletion (∼1.1 Mb) covers the region encoding Nav1.2 and Nav1.3 (129).…”

Section: Deletion Regionsmentioning

confidence: 99%

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

et al. 2021

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Genetic epilepsy occurs as a result of mutations in either a single gene or an interplay of different genes. These mutations have been detected in ion channel and non-ion channel genes. A noteworthy class of ion channel genes are the voltage gated sodium channels (VGSCs) that play key roles in the depolarization phase of action potentials in neurons. Of huge significance are SCN1A, SCN1B, SCN2A, SCN3A, and SCN8A genes that are highly expressed in the brain. Genomic studies have revealed inherited and de novo mutations in sodium channels that are linked to different forms of epilepsies. Due to the high frequency of sodium channel mutations in epilepsy, this review discusses the pathogenic mutations in the sodium channel genes that lead to epilepsy. In addition, it explores the functional studies on some known mutations and the clinical significance of VGSC mutations in the medical management of epilepsy. The understanding of these channel mutations may serve as a strong guide in making effective treatment decisions in patient management.

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Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder

Cited by 10 publications

References 4 publications

West syndrome: a comprehensive review

West syndrome: a comprehensive review

Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

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