Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients

Juanes, Matías; Veneruzzo, Gabriel; Loos, Mariana; Reyes, Gabriela; Aráoz, Hilda Verónica; García, Francisco Martín; Gómez, Gimena; Alonso, Cristina N.; Chertkoff, Lilien; Caraballo, Roberto

doi:10.1016/j.yebeh.2020.107322

Cited by 6 publications

(3 citation statements)

References 58 publications

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“…Of the studies identified (n = 103), 94 included estimates on the patterns of timing of clinical events. While several of these were prospective studies (n = 14), most were small cross-sectional studies, had a short follow-up period, or were chart reviews of adults (Supplemental Tables 2 and 3) [2,[9][10][11][17][18][19][25][26][27][28][29][30][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55]57,[59][60][61][62][63][64][65][66][67][68][69][71][72][73][74]…”

Section: Evolution and Presentation Of Clinical Semiologymentioning

confidence: 99%

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The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review

Sullivan

Deighton²,

Vila

et al. 2022

Epilepsy & Behavior

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Section: Evolution and Presentation Of Clinical Semiologymentioning

confidence: 99%

“…Only 13 studies assessed SE longitudinally and the remaining 27 had a cross-sectional design. SE is common in infancy [19,64,65] and occurrence gradually diminish with age after childhood. The mean age at onset of SE ranged from 5 to 11 months [64,65], and 77% experienced one or more episodes by 1.5 years of age [19].…”

Section: Seizure-related Outcomesmentioning

confidence: 99%

The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review

Sullivan

Deighton²,

Vila

et al. 2022

Epilepsy & Behavior

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“…Once sequenced, raw data were processed using an inhouse bioinformatic pipeline to detect single nucleotide variants and copy number variants (CNVs), according to international guidelines as previously described by our group. 19 Multiplex ligation-dependent probe amplification (SALSA MLPA Probemix P137-C1 SCN1A) to detect SNC1A CNVs was performed in all the negative cases. Segregation studies were performed by a traditional polymerase chain reaction followed by Sanger sequencing (SS, ABI 3130 and 3500, ThermoFisher) in 22 cases.…”

Section: Methodsmentioning

confidence: 99%

Dravet Syndrome: An Electroclinical, Genetic, Treatment, and Outcome Study of 35 Patients in Argentina

Caraballo,

Veneruzzo,

Loos

et al. 2024

Journal of Pediatric Epilepsy

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We analyzed the electroclinical features, molecular findings, treatment, disease course, and outcomes of patients with Dravet syndrome (DS) with positive genetic markers seen at a public hospital in Argentina. A retrospective study was conducted assessing the clinical records of 44 patients who met the diagnostic criteria for DS according to the 2022 classification of epilepsy of the International League Against Epilepsy seen at our center between March 2018 and June 2023. Of 44 patients, 35 (18 males and 17 females), in whom genetic studies yielded positive results, were included. Median age was 9 years (range 4 to 16 years), and the median time of follow-up was 10 years (range 3 to 14 years). The mean age at onset was 7 months. The first seizure was associated with febrile illness in all patients, and in 11 (31.4%), seizures were immediately preceded by either infectious disease or vaccination. Heterozygous pathogenic/likely pathogenic SCN1A variants were detected in 32 of the original 44 patients (73%), of which 47% were novel. Variants in other genes related to DS (HCN1, STXB1, and SCN1B) were identified in three patients. Cognitive delay and motor impairment were found to be more severe in patients that had multiple and drug-resistant seizures and in those who had the complete phenotype with myoclonic seizures. Novel SCN1A gene variants were identified in nearly half of the patients. The prognosis for cognitive development is unfavorable. Seizures are not well controlled with antiseizure medications and early treatment with ketogenic dietary therapy as well as cannabidiol should be considered.

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Two familial cases of infantile epileptic spasms syndrome associated with UDP‐glucose‐6‐dehydrogenase deficiency

Suyo,

Reyes Valenzuela,

Melgarejo

et al. 2024

Epileptic Disorders

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Developmental and epileptic encephalopathies (DEEs) are severe forms of epilepsy characterized by seizure onset in infancy or childhood. The seizures are typically drug‐resistant and often accompanied by significant alterations in the electroencephalogram (EEG). DEEs are associated with neurodevelopmental impairment, which can arise from both the epileptic activity itself and the underlying etiology, which is most often genetic in origin. We present the clinical and molecular features of two patients with DEE associated with a pathogenic variant in the UGDH gene. This gene encodes a protein that converts uridine diphosphate (UDP)‐glucose into UDP‐glucuronate, which plays a crucial role in the biosynthesis of glycosaminoglycans, essential components of the connective tissue and extracellular matrix. Both patients started with epileptic spasms associated with a pattern of hypsarrhythmia in the EEG at 4 months of age. Both developed global developmental delay and the physical examination revealed hypotonia and mildly dysmorphic features. In both families, there was another affected sibling with a similar clinical presentation, although genetic studies were not performed in one of these children. A homozygous pathogenic variant in the UGDH gene, NM_003359.4:c.131C>T – p.(Ala44Val), previously reported to be associated with the described phenotype, was identified.

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Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients

Cited by 6 publications

References 58 publications

The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review

The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review

Dravet Syndrome: An Electroclinical, Genetic, Treatment, and Outcome Study of 35 Patients in Argentina

Two familial cases of infantile epileptic spasms syndrome associated with UDP‐glucose‐6‐dehydrogenase deficiency

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