Association of genomic deletions in the <i>STXBP1</i> gene with Ohtahara syndrome

Saitsu, Hirotomo; Kato, Mitsuhiro; Shimono, Masayuki; Senju, Atsushi; Tanabe, Saori; Kimura, Takaharu; Nishiyama, Kiyomi; Yoneda, Yuriko; Kondo, Yukiko; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Hayasaka, Kiyoshi; Matsumoto, Naomichi

doi:10.1111/j.1399-0004.2011.01733.x

Cited by 29 publications

(41 citation statements)

References 12 publications

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“…Previously, EEG data of STXBP1-mutated EESB patients indicated that the paroxysmal abnormality is replaced before the age of one year by a general slowing of the EEG, superimposed by generalized or localized (Milh et al, 2011), which can also evolve into hypsarrhythmia (Milh et al, 2011;Saitsu et al, 2012;Mastrangelo et al, 2013). This EEG evolution is in line with the age-dependent transition of EESB into West syndrome, which occurs in 75% of cases, and, subsequently, into Lennox-Gastaut syndrome (Ohtahara & Yamatogi, 2006).…”

Section: Discussionmentioning

confidence: 99%

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Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing STXBP1 and SPTAN1

Nicita

Ulgiati

Bernardini

et al. 2015

Annals of Human Genetics

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SummaryDeletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes STXBP1, SPTAN1, ENG and TOR1A. We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.

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Section: Discussionmentioning

confidence: 99%

“…Recently, patients with 9q33-q34 microdeletion encompassing both STXBP1 and SPTAN1 have been described (Table 1) (Saitsu et al, 2010;Saitsu et al, 2012;Campbell et al, 2012;Mastrangelo et al, 2013;Barcia et al, 2014;Matsumoto et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing STXBP1 and SPTAN1

Nicita

Ulgiati

Bernardini

et al. 2015

Annals of Human Genetics

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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.…”

Section: 16mentioning

confidence: 99%

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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“…La resonancia magnética cerebral (RMC) fue habitualmente normal, así como los estudios neurometabólicos y cromosómicos. 35 Los autores concluyen que en su experiencia 1/3 de los individuos con EE infantil temprana presentan aberraciones en el gen STXBP1. En un estudio genético en niños con retardo mental grave se encontraron mutaciones de novo STXBP1 en dos pacientes con epilepsias graves.…”

Section: Epilepsias Graves (Incluidas Encefalopatías Epilépticas) En unclassified

Etiologías genéticas asociadas con epilepsias graves del lactante

Fejerman¹

2012

Arch Argent Pediat

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RESUMENLas epilepsias graves asociadas con etiologías genéticas, por anomalías cromosómicas o por mutaciones génicas comienzan en los dos primeros años de vida. Pueden presentar el fenotipo clínico-electroencefalográfico de las encefalopatías epilépticas, aunque muchos no se pueden incluir en categorías conocidas. Algunas anomalías cromosómicas, con fenotipo físico o sin él, se asocian a encefalopatías epilép-ticas en lactantes. En pacientes con enfermedad metabólica o estructural cerebral de etiología genética, las crisis epilépticas no constituyen la úni-ca manifestación. Se enfatiza el reconocimiento de nuevas mutaciones génicas en lactantes con crisis epilépticas refractarias a la medicación habitual, con imágenes cerebrales, estudios neurometabólicos y cariotipos convencionales normales. Se comentan nuevas técnicas de genética molecular -la hibridación genómica comparativa-para identificar variaciones en el número de copias y la eventual secuenciación de los genes buscados. El concepto válido para pediatras y neurólogos infantiles es que mutaciones en un mismo gen pueden provocar distintos síndromes epilépticos, y un síndrome epiléptico puede ser provocado por mutaciones en distintos genes. Palabras clave: epilepsias graves, encefalopatías epilépticas, cromosomopatías, enfermedades genéti-cas, lactantes. SUMMARYThis is an update on severe epilepsies in infancy that are associated with genetic etiologies, either chromosomal abnormalities or gene mutations. These severe epilepsies may present the clinical and electroencephalographic phenotype of the so called epileptic encephalopathies, although a significant number of cases do not comply with the criteria to be included among the already known categories, as classified by the International League Against Epilepsy. Several chromosomal abnormalities, with or without a characteristic physical phenotype, are associated with epileptic encephalopathies in infants. Many patients are affected by metabolic or structural cerebral diseases of genetic etiology, in which seizures are not the only manifestation. Inborn errors of metabolism, deficiencies in cerebral transporters, mitochondrial encephalopathies, several neuroectodermosis, and part of the brain malformations and disorders of cortical development are examples. Recognition of new gene mutations in infants with epileptic encephalopathies or other severe epilepsies whose brain imaging studies, neuro- Correspondencia:Dr. Natalio Fejerman: natalio@fejerman.com Conflicto de intereses:Ninguno que declarar.Recibido: 3-7-2012 Aceptado: 8-8-2012 metabolic screenings and conventional cariotypes are normal, is emphasized in this review. An algorhythm for diagnosis and treatment of neonatal seizures with no determined etiology is also included. Finally, the new molecular genetics techniques applied in the diagnostic approach of these conditions, such as Array Comparative Genomic Hybridization, the identification of copy number variations and the eventual sequencing of genes, are commented but not described. The concept fo...

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Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome

Cited by 29 publications

References 12 publications

Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing STXBP1 and SPTAN1

Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing STXBP1 and SPTAN1

GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

Etiologías genéticas asociadas con epilepsias graves del lactante

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