Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up

Nicita, Francesco; Ruggieri, Martino; Polizzi, Agata; Mauceri, Laura; Salpietro, Vincenzo; Briuglia, Silvana; Papetti, Laura; Ursitti, Fabiana; Grosso, Salvatore; Tarani, Luigi; Segni, Maria; Savasta, Salvatore; Parisi, Pasquale; Verrotti, Alberto; Spalice, Alberto

doi:10.1111/j.1528-1167.2012.03418.x

Cited by 47 publications

(50 citation statements)

References 12 publications

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“…In this study, approximately 43% of patients displayed various brain formation abnormalities that include PVL, cavum septum pel-lucidum, ventriculomegaly, and brain tumor, such as microadenoma. In addition, approximately 40% of individuals with SS reportedly experience seizures [10], which is consistent with our study (42.8%).…”

Section: Discussionsupporting

confidence: 92%

Genetic overgrowth syndrome: A single center’s experience

et al. 2018

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Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were analyzed. Materials and Methods: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively. Results: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligationdependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray. Conclusion: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.

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Section: Discussionsupporting

confidence: 92%

Genetic overgrowth syndrome: A single center’s experience

et al. 2018

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“…Heterozygous mutations in the NSD1 gene are associated with Sotos syndrome (autosomal dominant) 19 . Sotos syndrome is characterized by distinctive facial features, intellectual disability (ID), and overgrowth or macrocephaly, and seizures are reported in 9–50% of cases 20 . Our patient with PNES and an NSD1 mutation had normal neurodevelopment, an onset of PNES at 12 years of age, a history of mood disorder, and no history of febrile seizures or family history of seizures.…”

Section: Resultsmentioning

confidence: 99%

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

Leu

Bautista

Sudarsanam

et al. 2020

Sci Rep

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Psychogenic nonepileptic seizures (PNES) are diagnosed in approximately 30% of patients referred to tertiary care epilepsy centers. Little is known about the molecular pathology of PNES, much less about possible underlying genetic factors. We generated whole-exome sequencing and whole-genome genotyping data to identify rare, pathogenic (P) or likely pathogenic (LP) variants in 102 individuals with PNES and 448 individuals with focal (FE) or generalized (GE) epilepsy. Variants were classified for all individuals based on the ACMG-AMP 2015 guidelines. For research purposes only, we considered genes associated with neurological or psychiatric disorders as candidate genes for PNES. We observe in this first genetic investigation of PNES that six (5.88%) individuals with PNES without coexistent epilepsy carry P/LP variants (deletions at 10q11.22-q11.23, 10q23.1-q23.2, distal 16p11.2, and 17p13.3, and nonsynonymous variants in NSD1 and GABRA5). Notably, the burden of P/LP variants among the individuals with PNES was similar and not significantly different to the burden observed in the individuals with FE (3.05%) or GE (1.82%) (PNES vs. FE vs. GE (3 × 2 χ2), P = 0.30; PNES vs. epilepsy (2 × 2 χ2), P = 0.14). The presence of variants in genes associated with monogenic forms of neurological and psychiatric disorders in individuals with PNES shows that genetic factors are likely to play a role in PNES or its comorbidities in a subset of individuals. Future large-scale genetic research studies are needed to further corroborate these interesting findings in PNES.

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“…Epilepsy occurs in 25% of patients. In a report describing seizures in 19 patients with Sotos syndrome, the authors observed tonic–clonic, absence and temporal lobe seizures 37. Most people responded well to a single antiepileptic medication.…”

Section: Genetic Syndromesmentioning

confidence: 99%

When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

Dixit

Suri

2016

Pract Neurol

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Identifying the underlying cause of epilepsy often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. Epilepsy has many causes and a small but significant proportion of affected people have an identifiable genetic cause. Here, we discuss the role of genetic testing in adults with epilepsy, focusing on dysmorphic features noticeable on physical examination that might provide a strong clue to a specific genetic syndrome. We give illustrative examples of recognisable facial 'gestalt'. An astute clinician can recognise such clues and significantly shorten the process of making the underlying diagnosis in their patient.

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Seizures and epilepsy in Sotos syndrome: Analysis of 19 Caucasian patients with long‐term follow‐up

Cited by 47 publications

References 12 publications

Genetic overgrowth syndrome: A single center’s experience

Genetic overgrowth syndrome: A single center’s experience

Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures

When the face says it all: dysmorphology in identifying syndromic causes of epilepsy

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