Clinical spectrum of early-onset epileptic encephalopathies associated with
            <i>STXBP1</i>
            mutations

Deprez, Liesbet; Weckhuysen, Sarah; Holmgren, Philip; Suls, Arvid; Dyck, T Van; Goossens, Dirk; Del-Favero, Jurgen; Jansen, Anna; Verhaert, Kristien; Lagae, Lieven; Jordanova, Albena; Coster, Rudy Van; Yendle, Simone C.; Berkovic, Samuel F.; Scheffer, Ingrid E.; Ceulemans, Berten; Jonghe, Peter De

doi:10.1212/wnl.0b013e3181f4d7bf

Cited by 161 publications

(183 citation statements)

References 9 publications

(8 reference statements)

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“…Of the .50 patients with STXBP1 encephalopathy described, the majority present by 3 months of age, with Ohtahara syndrome or other early-onset epileptic encephalopathies. [22][23][24][25][26][27][28][29][30][31][32] Our patients had onset from 6 to 12 months, which is later than usually seen in STXBP1 encephalopathy. It is typically associated with epileptic spasms, and notably these were not observed in our patients with Dravet syndrome.…”

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confidence: 52%

GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

et al. 2014

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Objective: To determine the genes underlying Dravet syndrome in patients who do not have an SCN1A mutation on routine testing. Methods:We performed whole-exome sequencing in 13 SCN1A-negative patients with Dravet syndrome and targeted resequencing in 67 additional patients to identify new genes for this disorder.Results: We detected disease-causing mutations in 2 novel genes for Dravet syndrome, with mutations in GABRA1 in 4 cases and STXBP1 in 3. Furthermore, we identified 3 patients with previously undetected SCN1A mutations, suggesting that SCN1A mutations occur in even more than the currently accepted ;75% of cases. Conclusions:We show that GABRA1 and STXBP1 make a significant contribution to Dravet syndrome after SCN1A abnormalities have been excluded. Our results have important implications for diagnostic testing, clinical management, and genetic counseling of patients with this devastating disorder and their families. Neurology ® 2014;82:1245-1253 GLOSSARY cDNA 5 complementary DNA; dHPLC 5 denaturing high-performance liquid chromatography; FS 5 febrile seizures; GABA 5 g-aminobutyric acid; GEFS1 5 genetic epilepsy with febrile seizures plus; WES 5 whole-exome sequencing; WT 5 wild-type.

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confidence: 52%

GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

et al. 2014

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“…Ohtahara syndrome and early onset EE are associated with syntaxin binding protein 1 (STXBP1) mutations. 5 We screened children with MPSI for mutations in SCN1A, CDKL5, STXBP1, PCDH19 (females only), and the 3 common European mutations of POLG. Where possible, array CGH was performed to identify pathogenic copy number variations (CNV).…”

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confidence: 99%

“…5 Microarray analysis was performed using commercially available exon-focused oligonucleotide arrays with either 105,000 (1 patient) or 720,000 (11 patients) probes.…”

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confidence: 99%

De novo SCN1A mutations in migrating partial seizures of infancy

et al. 2011

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“…Developmental delay was severe for the four patients including STXBP1 in their deletion. These manifestations could be explained by STXBP1 haploinsufficiency as a large spectrum of epileptic phenotypes with developmental delay has been described from OS to West syndrome, 10 non-syndromic infantile epileptic encephalopathies and even to one patient with ID but without epilepsy. 11 STXBP1 encodes syntaxin-binding protein 1 (STXBP1), an evolutionarily conserved neuronal protein that is vital for the process of calcium ion-dependent exocytosis in neurons as well as in neuroendocrine cells.…”

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confidence: 99%

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

et al. 2015

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The increasing use of array-CGH in malformation syndromes with intellectual disability could lead to the description of new contiguous gene syndrome by the analysis of the gene content of the microdeletion and reverse phenotyping. Thanks to a national and international call for collaboration by Achropuce and Decipher, we recruited four patients carrying de novo overlapping deletions of chromosome 9q33.3q34.11, including the STXBP1, the LMX1B and the ENG genes. We restrained the selection to these three genes because the effects of their haploinsufficency are well described in the literature and easily recognizable clinically. All deletions were detected by array-CGH and confirmed by FISH. The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of STXBP1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to LMX1B deletion, epistaxis and cutaneousmucous telangiectasias explained by ENG haploinsufficiency and common facial dysmorphism. This systematic analysis of the genes comprised in the deletion allowed us to identify genes whose haploinsufficiency is expected to lead to disease manifestations and complications that require personalized follow-up, in particular for renal, eye, ear, vascular and neurological manifestations.

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Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

Cited by 161 publications

References 9 publications

GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

De novo SCN1A mutations in migrating partial seizures of infancy

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

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