epileptic spasms
Recently Published Documents


TOTAL DOCUMENTS

247
(FIVE YEARS 103)

H-INDEX

19
(FIVE YEARS 4)

2022 ◽  
Vol 126 ◽  
pp. 108451
Author(s):  
Roberto Caraballo ◽  
Marcos Semprino ◽  
Lorena Fasulo ◽  
Gabriela Reyes ◽  
Santiago Chacón ◽  
...  
Keyword(s):  

2021 ◽  
Vol 15 ◽  
Author(s):  
Huiting Zhang ◽  
Liu Yang ◽  
Jing Duan ◽  
Qi Zeng ◽  
Li Chen ◽  
...  

Objective: We aimed to explore the associated clinical phenotype and the natural history of patients with SYNGAP1 gene variations during early childhood and to identify their genotype–phenotype correlations.Methods: This study used a cohort of 13 patients with epilepsy and developmental disorder due to SYNGAP1 mutations, namely, 7 patients from Shenzhen Children’s Hospital between September 2014 and January 2020 and 6 patients from previously published studies. Their clinical data were studied.Results: A total of 13 children with SYNGAP1 gene variants (eight boys and five girls) were identified. The age of disease onset was in infancy. Mutations were located between exons 8 and 15; most were frameshift or truncated mutations. Four mutation sites (c.924G > A, c.1532-2_1532del, c.1747_1755dup, and c.1735_1738del) had not been reported before. All patients had global developmental delay within the first year of life, and intellectual impairment became gradually apparent. Some of them developed behavioral problems. The developmental delay occurred before the onset of seizures. All seven patients in our cohort presented with epilepsy; myoclonic seizures, absence seizures, and epileptic spasms were the most common seizure types. Abnormal electroencephalograms were identified from five patients before the onset of their seizures. All patients suffered from drug-resistance seizures. However, comorbidities such as behavioral problems were less frequently observed.Conclusion: The most common age of disease onset in SYNGAP1 gene mutations is in infancy, while neurodevelopmental delay and epilepsy are the major phenotypes. They have a higher percentage of drug-resistant epilepsy and epileptic spasms than those in previous reports. We should give attention to the patients with abnormal EEGs without seizures and think about the suitable time of the anti-seizure medications for them. We have not found the genotype–phenotype correlation.Trial registration: Chinese Clinical Trial Registry, Registration number: ChiCTR2100049289 (https://www.chictr.org.cn/listbycreater.aspx).


2021 ◽  
Vol 11 (12) ◽  
pp. 1601
Author(s):  
Tohru Okanishi ◽  
Ayataka Fujimoto

In 1940, van Wagenen and Herren first proposed the corpus callosotomy (CC) as a surgical procedure for epilepsy. CC has been mainly used to treat drop attacks, which are classified as generalized tonic or atonic seizures. Epileptic spasms (ESs) are a type of epileptic seizure characterized as brief muscle contractions with ictal polyphasic slow waves on an electroencephalogram and a main feature of West syndrome. Resection surgeries, including frontal/posterior disconnections and hemispherotomy, have been established for the treatment of medically intractable ES in patients with unilaterally localized epileptogenic regions. However, CC has also been adopted for ES treatment, with studies involving CC to treat ES having increased since 2010. In those studies, patients without lesions observed on magnetic resonance imaging or equally bilateral lesions predominated, in contrast to studies on resection surgeries. Here, we present a review of relevant literature concerning CC and relevant adaptations. We discuss history and adaptations of CC, and patient selection for epilepsy surgeries due to medically intractable ES, and compared resection surgeries with CC. We propose a surgical selection flow involving resection surgery or CC as first-line treatment for patients with ES who have been assessed as suitable candidates for surgery.


2021 ◽  
Author(s):  
Sathya Chidambaram ◽  
Ranjith Kumar Manokaran

Abstract GRIN2B is a gene encoding GluN2B subunit under the family of N-methyl D-aspartate (NMDA) receptors, which is responsible for neurogenesis and cognitive processes. The role of NMDA receptor antagonists like memantine is being explored for therapies in drug-resistant epilepsies. Here, we present a case of a 20-month-old boy who presented with refractory epileptic spasms. Upon failure of multiple antiepileptic drugs, he was started on oral memantine. There was a significant reduction in average seizure episodes by ∼80%. The use of memantine along with antiepileptic drug polytherapy has proved to be beneficial in our case. Our experience with memantine and favorable outcome opens up the scope of more research into the use of NMDA receptor antagonist as a drug option for refractory epilepsies with proven genetic mutation and hence improves the overall neurodevelopmental outcome and survival chance.


2021 ◽  
Author(s):  
Yukitoshi Takahashi ◽  
Akiko Oota ◽  
Jun Tohyama ◽  
Tomoko Kirino ◽  
Yumi Fujiwara ◽  
...  

Author(s):  
PM Webb ◽  
A Datta

Background: Epileptic spasms (ES) are a devastating seizure type with poor neurodevelopmental outcome; 1/3 are resistant to treatment with first line therapies. Recently attention has been drawn to the ketogenic diet (KD) as a potentially effective therapy, though data regarding optimal time of initiation, and its sustained effectiveness, are lacking. Methods: Retrospective chart review of all patients with ES treated with KD at BC Children’s Hospital between 2002 and 2020 (n=28) with comparison of spasm response based on age of initiation of KD in two groups: < 12 months (n=11) and ≥ 12 months (n=17). Results: Comparing the <12 months and ≥ 12 months groups showed: unknown etiology in 9% vs 25%; spasm freedom for 3 months on KD in 18% vs 41%; median time to spasm freedom was 2 vs 6 weeks; relapse after a period of spasm freedom occurred in 66% vs 70%. Conclusions: Although more effective in children ≥ 12 months of age in the first 3 months, spasm freedom in either group was not sustained with KD. KD is recommended as early therapy for refractory ES, but this study suggests clinicians be aware the KD has limited efficacy in long-term control of ES and must be used with other therapies.


2021 ◽  
Vol 429 ◽  
pp. 118900
Author(s):  
Jithangi Wanigasinghe ◽  
Gemunu Hewawitharana ◽  
Saraji Wijesekera ◽  
Pyara Ratnayake ◽  
Chathurika Weeraratne ◽  
...  

2021 ◽  
Author(s):  
Fiona McEwen ◽  
Charlotte Tye ◽  
Holan Liang ◽  
Emma Woodhouse ◽  
Lisa Underwood ◽  
...  

Tuberous Sclerosis Complex (TSC) is a single gene disorder – caused by mutation in the TSC1 or TSC2 gene – that carries a high risk of autism spectrum disorder (ASD). Various neurological complications increase the risk of ASD but the way risk factors operate together is unclear. We aimed to explore risk pathways to ASD by modelling the interplay between genetic mutation (TSC1/TSC2), cortical tuber count, seizure type and severity. The Tuberous Sclerosis 2000 Study is a UK population-based, prospective study of the natural history of TSC. We recruited newly diagnosed children (N=125, 49.6% male, median age=2.7 years [range 4 weeks – 18 years]) and collected data on mutation, cortical tuber count (cranial MRI/CT), seizure history, and IQ. ASD and IQ assessments were carried out at 10-year follow up (N=86, 45.0% male, median age=12.5 years [range 7.8 – 26.9 years]). Assessment for ASD included the Autism Diagnostic Interview–Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS-2). Structural equation modelling using full information maximum likelihood estimation was used to explore pathways that mediate between mutation and ASD. Risk of ASD was high: 39.5% met research criteria for ASD and a further 41.9% showed autistic traits. Structural equation modelling resulted in two indirect pathways, with cortical tuber count and occurrence/severity of epileptic spasms in infancy mediating between mutation and ASD (mutation→tubers→spasms→ASD, B=2.08, 95% CI 0.15–8.02; mutation→spasms→ASD, B=2.98, 95% CI 0.04–8.89). Concurrent seizures (B=3.08, 95% CI 0.42–6.18) and IQ (B=-117.10, 95% CI -183.57–-59.16) were also associated with ASD symptoms. There was significantly elevated risk of ASD and subclinical autistic traits. Tuber count and severity of epileptic spasms predicted ASD severity, suggesting that seizures in infancy may push genetically vulnerable individuals over the threshold for an ASD diagnosis. Prevention/control of seizures in infancy may decrease severity of ASD symptoms. However, ASD was occasionally reported in the absence of overt seizures in infancy, so their causal role requires further investigation.


Sign in / Sign up

Export Citation Format

Share Document