Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report

Li, Cuiyun; Li, Wei; Chen, Liting; Wang, Dan; Wang, Jie; Wang, Jian; Yao, Rutao

doi:10.3389/fped.2022.931667

Cited by 3 publications

(3 citation statements)

References 22 publications

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“…In a single infant there was occurrence of major seizures [10]. However, patients showed abnormal EEGs with bifrontal spikes; sharp, sharp slow, spinous slow waves in the bilateral occipital areas [10]; epileptiform discharges in the centro-temporal regions, enhanced in sleep; and occasional theta slowing in the left and right temporal and posterior quadrants, at times with occasional diffuse theta slowing with occipital predominance, features in part also seen in our patient (Table 2). Like our patient, the LoF/PVT cases usually showed an abnormal subcortical white matter hyperintense signal on T2-FLAIR sequences, few punctiform frontal white matter changes, mild bifrontal white matter volume loss, mild prominence of the frontal horns and bodies, mild symmetric prominence of the subarachnoid fluid, and normal MRI (Table 2).…”

Section: Discussionsupporting

confidence: 72%

“…In most of the cases with LoF/PVTs, we noted absent or mild epileptic activity, non-specific EEG and brain imaging, and no association with epilepsy [4,9] or seizure-like activity [4]. In a single infant there was occurrence of major seizures [10]. However, patients showed abnormal EEGs with bifrontal spikes; sharp, sharp slow, spinous slow waves in the bilateral occipital areas [10]; epileptiform discharges in the centro-temporal regions, enhanced in sleep; and occasional theta slowing in the left and right temporal and posterior quadrants, at times with occasional diffuse theta slowing with occipital predominance, features in part also seen in our patient (Table 2).…”

Section: Discussionmentioning

confidence: 67%

“…In conclusion, our study provides new clinical and molecular information useful for the management of patients with SATB1 variants. Patients with LoF/PVTs are still few in number, and further investigations are needed to better define main clinical features and their progression, considering also antiepileptic drugs as possible therapies [10]. This report adds a new gene variant to those already known to be associated with SATB1-related disorders.…”

Section: Discussionmentioning

confidence: 92%

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Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

Privitera,

Pagano,

Meossi

et al. 2024

Genes

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SATB1 (MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of clinical manifestations. In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging. Family studies identified a new de novo frameshift variant c.1818delG (p.(Gln606Hisfs*101)) in SATB1. To better define genotype–phenotype associations in the different types of reported SATB1 variants, we reviewed clinical data from our patient and from the literature and compared manifestations (epileptic activity, EEG abnormalities and abnormal brain imaging) due to missense variants versus those attributable to loss-of-function/premature termination variants. Our analyses showed that the latter variants are associated with less severe, non-specific clinical features when compared with the more severe phenotypes due to missense variants. These findings provide new insights into SATB1-related disorders.

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Section: Discussionsupporting

confidence: 72%

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 92%

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Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

Privitera,

Pagano,

Meossi

et al. 2024

Genes

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Sulthiame use in children with pharmacoresistant epilepsies: A retrospective study

Laliberté,

Berrahmoune,

Myers

2024

Epileptic Disorders

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ObjectiveThis retrospective study aimed to assess the efficacy and tolerability of sulthiame as an add‐on treatment in children with pharmacoresistant epilepsies.MethodsAll patients with epilepsy who received sulthiame at Montreal Children's Hospital over an 11‐year period were included. Medical charts were reviewed, and extracted data included patient age and sex, seizure types, epilepsy syndrome, electroencephalography (EEG) reports, brain imaging reports, antiseizure treatments trialed, starting and final dose of sulthiame, duration of sulthiame treatment, adverse events attributed to sulthiame, and seizure frequency before and after sulthiame treatment. EEG studies were also analyzed and spike–wave index (SWI) in the first 10 min of sleep was calculated.ResultsSixteen patients were included, all of whom had pharmacoresistant epilepsies (mean of 9.9 trials of other antiseizure treatments). Six had genetic diagnoses, four had in utero/perinatal acquired brain injury, one had a suspected focal cortical dysplasia, and five were idiopathic. Ten patients had developmental and epileptic encephalopathy with spike–wave activation in sleep, three had Lennox–Gastaut syndrome, and one each had sleep‐related hyperkinetic epilepsy, self‐limited epilepsy with centrotemporal spikes, and mixed generalized and multifocal epilepsy. Of the 12 patients with uncontrolled seizures at the time of sulthiame initiation, 4 had improvement in seizure frequency, including 2 who became seizure free. Eight patients had EEG data available that allowed calculation of sleep SWI; from this group, SWI decreased from 81.1% +/− 17.6% to 45.1% +/− 36.5% (p = .007). The most common adverse events reported were somnolence/drowsiness, aggression, and increased seizure frequency. Of the patients with genetic etiologies, significant positive responses were seen in patients with pathogenic variants in NDUFS1 and SATB1.SignificanceThese data demonstrate the therapeutic potential of sulthiame, even in patients with highly pharmacoresistant epilepsy. Improvements may be seen in both seizure frequency and sleep SWI.

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The complex etiology of Epilepsy in the Middle East: Genetic analysis and HLA associations

Fadda,

Alsabbagh,

Vasudeva

et al. 2024

Preprint

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Objectives Epilepsy is one of the most common neurological disorders. The cost to the health system and the impact on quality of life for patients with intractable epilepsies and associated comorbidities is significant. Disease etiology and pathogenesis are still not well understood. Genetic variants have been shown to be associated with 70% of epilepsies, and the remaining 30% enigmatic. This knowledge gap necessitates further research. The goal of this study is to partially bridge this gap through the genetic analysis of a cohort of patients with epilepsy from an understudied and highly consanguineous population, primarily of ethnicities from the Middle East and North Africa region. Methods Whole exome sequencing was carried out in 67 patients and their family members at a tertiary center in Qatar. The focus was on identifying deleterious genetic variants associated with epilepsy. Additionally, we performed in silico typing for 13 class I & II HLA genes and performed association analysis with disease status. Results Approximately 30% of cases were resolved through genetic analysis, revealing deleterious variants within 15 genes of established relevance to epilepsy and 5 others with weaker ties to the condition. These variants include single nucleotide variations (SNVs), small insertion/deletions (indels), copy number variations (CNVs) and loss of heterozygosity (LOH). Around 40% of the SNVs and indels are novel. The mode of inheritance is roughly evenly distributed between autosomal dominant and autosomal recessive, with two cases of X-linked recessive and one case of X-linked inheritance. Furthermore, we identified positive associations between epilepsy and alleles DRB1*07:01:01G and DRB4*01:01:01G, while allele DRB3*01:01:02Gexhibited a negative association. Significance Collectively, these findings delineate novel variants and a multifaceted genetic etiology in epilepsy pathogenesis, encompassing both immune and non-immune genes.

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Neurodevelopmental disorders and anti-epileptic treatment in a patient with a SATB1 mutation: A case report

Cited by 3 publications

References 22 publications

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

Sulthiame use in children with pharmacoresistant epilepsies: A retrospective study

The complex etiology of Epilepsy in the Middle East: Genetic analysis and HLA associations

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