Cryptogenic Epileptic Syndromes Related to SCN1A

Zucca, Claudio; Redaelli, Francesca; Epifanio, Roberta; Zanotta, Nicoletta; Romeo, Antonino; Lodi, Monica; Veggiotti, Pierangelo; Airoldi, Giovanni; Panzeri, Maria Carla; Romaniello, Romina; Polo, G. De; Bonanni, Paolo; Cardinali, Simonetta; Baschirotto, Cinzia; Martorell, Loreto; Borgatti, Renato; Bresolin, Nereo; Bassi, Maria Teresa

doi:10.1001/archneur.65.4.489

Cited by 44 publications

(34 citation statements)

References 25 publications

(53 reference statements)

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“…Although cases of incomplete penetrance were previously described in patients with febrile seizure or generalized epilepsy with febrile seizures plus (GEFSþ), there is no family history in three generations of those phenotypes (Brunklaus and Zuberi, 2014). This SCN1A variant was previously reported in a patient with severe myoclonic epilepsy of infancy accompanied by a second SCN1A missense mutation (Zucca et al, 2008). At the moment, the classification of this particular variant is unclear and predicted to be benign according to PP-2 and SIFT.…”

Section: Discussionmentioning

confidence: 94%

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

Rocha

Sampaio²,

Rocha³

et al. 2016

European Journal of Medical Genetics

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Section: Discussionmentioning

confidence: 94%

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

Rocha

Sampaio²,

Rocha³

et al. 2016

European Journal of Medical Genetics

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“…In the same region, p.Leu1269fsX mutation was reported previously, which was also associated with SMEI and coexisting severe mental retardation and ataxia. 23 Patients with a mutation, either truncating or missense, on linker regions had significantly later onset of disease. 24 In our current study, mutation location involved linker regions in 3 patients.…”

Section: Discussionmentioning

confidence: 99%

Expanding spectrum of SCN1A-related phenotype with novel mutations

et al. 2017

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Mutations in the genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes, with most of the mutations occurring in SCN1A gene. It is one of the most well-researched epilepsy genes. The SCN1A gene, which seems to be a relevant regulator of excitability of the CNS, is implicated in various epilepsy phenotypes through various genetic mechanisms ranging from common variants to rare monogenic variants. It is known that SCN1A gene is tightly linked to severe myoclonic epilepsy of infancy (SMEI). However, its phenotypic spectrum is expanding. Here, we report clinical and genetic findings of 10 patients with SCN1A mutations where two of them were found to have novel mutations. Our findings support understanding and updating knowledge on the correlation between phenotype distribution and location and type of mutations in SCN1A-related disorders.

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“…Nevertheless, Zucca et al. (2008) reported the same variant as a causative mutation causing a severe myoclonic epilepsy of infancy (SMEI) and the variant was not present in a panel of 250 Caucasian controls. Zucca et al.…”

Section: Discussionmentioning

confidence: 99%

“…2001; Zucca et al. 2008). It is worth noting that the frequency of this SNP in a large (~600 individuals) Caucasian population from the ClinSeq project available in the NCBI SNP database is 0.3%.…”

Section: Discussionmentioning

confidence: 99%

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

Maksemous

Roy

Smith

et al. 2016

Molec Gen & Gen Med

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Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo, and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of the calcium channel gene CACNA1A. In addition to EA2, mutations in CACNA1A are responsible for two other allelic disorders: familial hemiplegic migraine type 1 (FHM1) and spinocerebellar ataxia type 6 (SCA6). Herein, we have utilized next‐generation sequencing (NGS) to screen the coding sequence, exon‐intron boundaries, and Untranslated Regions (UTRs) of five genes where mutation is known to produce symptoms related to EA2, including CACNA1A. We performed this screening in a group of 31 unrelated patients with EA2 symptoms. Both novel and known mutations were detected through NGS technology, and confirmed through Sanger sequencing. Genetic testing showed in total 15 mutation bearing patients (48%), of which nine were novel mutations (6 missense and 3 small frameshift deletion mutations) and six known mutations (4 missense and 2 nonsense).These results demonstrate the efficiency of our NGS‐panel for detecting known and novel mutations for EA2 in the CACNA1A gene, also identifying a novel missense mutation in ATP1A2 which is not a normal target for EA2 screening.

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Cryptogenic Epileptic Syndromes Related to SCN1A

Cited by 44 publications

References 25 publications

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review

Expanding spectrum of SCN1A-related phenotype with novel mutations

Next‐generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2

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