Dravet syndrome with SCN1B gene mutation: A rare entity

Mukherjee, Devdeep; Mukherjee, Swapan; Niyogi, Prabal; Mahapatra, Manas

doi:10.4103/neuroindia.ni_1115_15

Cited by 7 publications

(8 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently, Darras et al identified two DS patients with SCN1B mutations. However, these two patients had mild symptoms that differed markedly from the previous cases reported by Patino and Mukherjee et al ( 40 , 42 ). O'Malley et al reported that adult Scn1b knockout mice showed DS-like phenotype such as epilepsy and SUDEP ( 80 ).…”

Section: Discussion and Synthesiscontrasting

confidence: 66%

“…According to the diagnosis of DS, the onset is about 6–12 months, and cognitive functioning may deteriorate until 1–2 years old. However, the authors suggest that, as the child was having post-vaccinal convulsions, a possible diagnosis of DS was considered, which is clearly inappropriate ( 42 ). Aeby et al recently reported a patient with SCN1B mutation who was hypotonic at birth and presented with multiple seizures (multifocal myoclonus, focal seizures, and myoclonic status epilepticus) at 2.5–3 months of age, associated with fever.…”

Section: Discussion and Synthesismentioning

confidence: 99%

“…published from 2009 to 2021 in English or Chinese. Regarding the studies included, six studies on PCDH19 (27,(29)(30)(31)(32)(33)(34), three on SCN2A (36)(37)(38), two on SCN8A (27,39), five on SCN1B (40)(41)(42)(43)(44), two on GABRA1 (28,45), three on GABRB3 (47-49), three on GABRG2 (50-52), and three on STXBP1 (27,28,46) were included. Only one study was recorded for CHD2 (54), CPLX1, HCN1, and KCNA2, respectively (35,53,55,56).…”

Section: Study Characteristics and Findingsmentioning

confidence: 99%

See 2 more Smart Citations

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes

et al. 2022

View full text Add to dashboard Cite

BackgroundDravet syndrome (DS) is a severe epileptic encephalopathy mainly caused by haploinsufficiency of the gene SCN1A, which encodes the voltage-gated sodium channel NaV1. 1 in the brain. While SCN1A mutations are known to be the primary cause of DS, other genes that may cause DS are poorly understood. Several genes with pathogenic mutations result in DS or DS-like phenotypes, which may require different drug treatment approaches. Therefore, it is urgent for clinicians, especially epilepsy specialists to fully understand these genes involved in DS in addition to SCN1A. Particularly for healthcare providers, a deep understanding of these pathogenic genes is useful in properly selecting and adjusting drugs in a more effective and timely manner.ObjectiveThe purpose of this study was to identify genes other than SCN1A that may also cause DS or DS-like phenotypes.MethodsA comprehensive search of relevant Dravet syndrome and severe myoclonic epilepsy in infancy was performed in PubMed, until December 1, 2021. Two independent authors performed the screening for potentially eligible studies. Disagreements were decided by a third, more professional researcher or by all three. The results reported by each study were narratively summarized.ResultsA PubMed search yielded 5,064 items, and other sources search 12 records. A total of 29 studies published between 2009 and 2021 met the inclusion criteria. Regarding the included articles, seven studies on PCDH19, three on SCN2A, two on SCN8A, five on SCN1B, two on GABRA1, three on GABRB3, three on GABRG2, and three on STXBP1 were included. Only one study was recorded for CHD2, CPLX1, HCN1 and KCNA2, respectively. It is worth noting that a few articles reported on more than one epilepsy gene.ConclusionDS is not only identified in variants of SCN1A, but other genes such as PCDH19, SCN2A, SCN8A, SCN1B, GABRA1, GABRB3, GABRG2, KCNA2, CHD2, CPLX1, HCN1A, STXBP1 can also be involved in DS or DS-like phenotypes. As genetic testing becomes more widely available, more genes associated with DS and DS-like phenotypes may be identified and gene-based diagnosis of subtypes of phenotypes in this spectrum may improve the management of these diseases in the future.

show abstract

Section: Discussion and Synthesiscontrasting

confidence: 66%

Section: Discussion and Synthesismentioning

confidence: 99%

Section: Study Characteristics and Findingsmentioning

confidence: 99%

See 1 more Smart Citation

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like Phenotypes

et al. 2022

View full text Add to dashboard Cite

show abstract

“…[1,2,6] We screened 48 DS patients and found 26 DS patients (54.2%) had SCN1A variants (Table S1), which were also reported in previous studies and database. [30–32] Studies reported causative variants of SCN1B p.R125C in two infants with DS [8,10] and SCN1B p.lle106Phe in one of 67 DS patients. [9] In order to find the pathogenesis of DS except SCN1A variants, we carried out this study to investigate the variants of SCN1B and SCN2B variants in DS patients.…”

Section: Discussionmentioning

confidence: 99%

“…[4,7] More recently, SCN1B variants were also identified in DS patients without SCN1A variants. [8–10] However, these variants of SCN1B are found in individual patients, but not in cohort patients. A study found no variant of SCN1B in a cohort of 54 DS patients in whom SCN1A exons variant had been excluded.…”

Section: Introductionmentioning

confidence: 99%