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Infantile Spasm West Syndrome

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Infantile Spasms: Opportunities to Improve Care.

Ricka Messer, Kelly G Knupp,

Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains ... Read more >>

Semin Neurol (Seminars in neurology)
[2020, :]

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Post-Traumatic West Syndrome due to Abusive Head Trauma in Two Infants with Different Brain Imaging Findings.

Risa Takeda, Satoru Kobayashi, Naomi Kamioka, Naoki Hamajima, Kanji Muramatsu, Satoshi Suzuki,

Abusive head trauma (AHT), commonly known as shaken baby syndrome, is a cranial injury of infants and young children. AHT is an important cause of morbidity and mortality in young children, particularly those younger than 12 months of age. We describe two patients who developed West syndrome, which is a ... Read more >>

Tohoku J. Exp. Med. (The Tohoku journal of experimental medicine)
[2020, 250(3):167-171]

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Neuro-Developmental and Epilepsy Outcomes of Children with West Syndrome: A Cross-Sectional Study from North India.

Juhi Gupta, Suvasini Sharma, Sharmila B Mukherjee, Puneet Jain, Satinder Aneja,

Objectives:To assess the neurodevelopmental outcome of West syndrome (WS) in Indian children, who differ in their clinical profile from the western population. Materials and Methods:This cross-sectional study enrolled children aged 2--5 years with prior diagnosis of WS between November 2013 and March 2015. They were assessed for epilepsy outcome and ... Read more >>

Ann Indian Acad Neurol (Annals of Indian Academy of Neurology)
[2020, 23(2):177-181]

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Status Epilepticus Manifested as Continuous Epileptic Spasms.

Jianxiang Liao, Tieshuan Huang, Myriam Srour, Yuhan Xiao, Yan Chen, Sufang Lin, Li Chen, Yan Hu, Lina Men, Jialun Wen, Bing Li, Feiqiu Wen, Lan Xiong,

Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes. Methods: This is a case series study ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:65]

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Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome.

Stéphane Auvin, Blandine Dozières-Puyravel, Andreja Avbersek, David Sciberras, Jo Collier, Karine Leclercq, Pavel Mares, Rafal M Kaminski, Pierandrea Muglia,

OBJECTIVE:Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients, prompted us to test ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(3):343-352]

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Clinical features and electroclinical evolution in 22 cases with epileptic spasms without hypsarrhythmia.

Reiko Koichihara, Shin-Ichiro Hamano, Atsuro Daida, Hazuki Nonoyama, Satoru Ikemoto, Yuko Hirata, Ryuki Matsuura,

This study aimed to investigate the general presentation of epileptic spasms without hypsarrhythmia (ESwoH) and retrospectively determine whether there are differences in treatment effects related to ACTH therapy, long-term seizure outcome, and evolution of EEG features according to pre-treatment EEG patterns. According to the pattern of background activity, we divided ... Read more >>

Epileptic Disord (Epileptic disorders : international epilepsy journal with videotape)
[2020, 22(1):73-82]

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A girl with protein-losing enteropathy during a ketogenic diet: a case report.

Juan Wang, Li Jiang, Min Cheng,

BACKGROUND:A ketogenic diet (KD) is an effective treatment for intractable epilepsy in children. Protein-losing enteropathy (PLE) is a rarely reported but serious complication of KDs. CASE PRESENTATION:A 3-month-old female patient presented with PLE while following a KD as treatment for intractable epilepsy. She also had genovariation of the STXBP1 gene. ... Read more >>

BMC Pediatr (BMC pediatrics)
[2020, 20(1):102]

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Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.

Yumei Yan, Dake He, Jing Wu, Ruolin Hou, Kun Sun, Ling Li,

OBJECTIVE:CDKL5-related disorders (CDD) is an epileptic encephalopathy resulted of gene mutations of CDKL5. This study aimed to explore the development process of CDD and to expand its mutation spectrum. METHODS:Clinic datawas collected about three infantile epileptic encephalopathy cases diagnosed at Xinhua Hospital Affiliated to Shanghai Jiaotong University, School of Medicine. ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):27]

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Cannabidiol in treatment of refractory epileptic spasms: An open-label study.

Aline Herlopian, Evan J Hess, James Barnett, Alexandra L Geffrey, Sarah F Pollack, Lauren Skirvin, Patricia Bruno, Jo Sourbron, Elizabeth A Thiele,

OBJECTIVE:This study aimed to evaluate clinical efficacy and safety of purified pharmaceutical cannabidiol (CBD) as an adjunctive therapy in refractory childhood-onset epileptic spasms (ES). METHODS:Nine patients with ES were enrolled in an Institutional Review Board (IRB)- and Food and Drug Administration (FDA)-approved expanded access investigational new drug trial. Patients received ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 106:106988]

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Limited efficacy of zonisamide in the treatment of refractory infantile spasms.

Shaun A Hussain, Mario Navarro, Jaeden Heesch, Matthew Ji, Brenda Asilnejad, Haley Peters, Rajsekar R Rajaraman, Raman Sankar,

A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single-center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of zonisamide. We retrospectively identified all patients with infantile spasms who were ... Read more >>

Epilepsia Open (Epilepsia open)
[2020, 5(1):121-126]

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Mortality in infantile spasms: A hospital-based study.

Chellamani Harini, Elanagan Nagarajan, Ann M Bergin, Phillip Pearl, Tobias Loddenkemper, Masanori Takeoka, Peter F Morrison, David Coulter, Gita Harappanahally, Candice Marti, Kanwaljit Singh, Christopher Yuskaitis, Annapurna Poduri, Mark H Libenson,

OBJECTIVE:To determine risk factors and causes for mortality during childhood in patients with infantile spasms (IS). We describe the overall goals of care for those who died. METHODS:This is a retrospective chart review of IS patients born between 2000 and 2011. We examined potential risk factors for mortality, including etiology, ... Read more >>

Epilepsia (Epilepsia)
[2020, :]

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Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms.

Remi Janicot, Li-Rong Shao, Carl E Stafstrom,

Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of IS etiologies, more than 200 of which are known. In particular, the neurobiological basis ... Read more >>

Children (Basel) (Children)
[2020, 7(1):]

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Felbamate in the treatment of refractory epileptic spasms.

Shaun A Hussain, Brenda Asilnejad, Jaeden Heesch, Mario Navarro, Matthew Ji, Daniel W Shrey, Rajsekar R Rajaraman, Raman Sankar,

Several small case series provide conflicting impressions of the efficacy of felbamate for treatment of epileptic spasms. Using a large single-center cohort of children with epileptic spasms, we retrospectively evaluated the efficacy and safety of felbamate. We identified all patients with video-EEG confirmed epileptic spasms who were treated with felbamate ... Read more >>

Epilepsy Res. (Epilepsy research)
[2020, 161:106284]

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Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang, Zhixian Yang,

OBJECTIVE:To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. METHODS:Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic studies were performed on all patients. RESULTS:There were 7 patients with 15 PIGN mutations (one patient carrying 3 ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):78]

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[Clinical phenotypes of epilepsy associated with GABRA1 gene variants].

Y Yang, Y H Zhang, J Y Chen, J H Ma, D Sun, X L Yang, J Zhang, Y Chen, X R Wu,

Objective: To summarize the clinical phenotypes of epilepsy in patients with GABRA1 gene variants. Methods: A total of 11 epileptic patients (4 boys and 7 girls) who were treated in the Department of Pediatrics, Peking University First Hospital from March 2016 to July 2019 and detected with GABRA1 gene heterozygous ... Read more >>

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2020, 58(2):118-122]

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West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother.

Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira,

Infantile vitamin B12 deficiency, a rare nutritional disorder in developed countries, is characterized by megaloblastic anemia and non-specific symptoms, including failure to thrive, hypotonia, and seizure. Symptoms usually develop at 6 months of age. Exclusively breast-fed infants of vegan-diet mothers are particularly at risk. We report the case of a ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:531]

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Contribution of Transferrin and Ceruloplasmin Neurotransmission and Oxidant/Antioxidant Status to the Effects of Everolimus: A Case Series.

Kunio Yui, George Imataka, Hitomi Sasaki, Yohei Kawasaki, Shigemi Yoshihara,

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of associated autism spectrum disorder (ASD). The pathophysiology of TSC mainly involves the hyperactivation of mammalian target of rapamycin (mTOR) induced by TSC1 (hamartin) and TSC2 (tuberin) heterozygosity. The mTOR inhibitor, everolimus, is a therapeutic target for TSC-related ASD. ... Read more >>

Cureus (Cureus)
[2020, 12(2):e6920]

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Synthetic pharmaceutical grade cannabidiol for treatment of refractory infantile spasms: A multicenter phase-2 study.

Shaun A Hussain, Dennis J Dlugos, M Roberta Cilio, Neha Parikh, Alex Oh, Raman Sankar,

PURPOSE:Limited data suggest that cannabidiol (CBD) may be effective for treatment of refractory infantile spasms (IS). This study was designed to more rigorously evaluate the efficacy and safety of synthetic CBD in the treatment of IS. METHODS:Children six to 36 months of age with IS that failed treatment with both adrenocorticotropic ... Read more >>

Epilepsy Behav (Epilepsy & behavior : E&B)
[2020, 102:106826]

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Outcomes among patients with infantile spasms treated with hormonal therapy and adjuvant topiramate versus hormonal therapy alone.

Jordana R Fox, Natalie Guido-Estrada, Korwyn Williams, Randa Jarrar,

Hormonal therapy is the first-line treatment for infantile spasms and is sometimes used in combination with topiramate for better seizure control and potentially improved developmental outcomes. Retrospective review of pediatric patients with infantile spasms, with data compiled on patient sex, age at onset, etiology, electroencephalographic and imaging findings, topiramate use, ... Read more >>

Epileptic Disord (Epileptic disorders : international epilepsy journal with videotape)
[2020, 22(1):33-38]

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Felbamate for infantile spasms syndrome resistant to first-line treatments.

Blandine Dozières-Puyravel, Hala Nasser, Vanina Bellavoine, Adina Ilea, Catherine Delanoe, Stéphane Auvin,

AIM:To analyse the effects of felbamate in refractory infantile spasms/West syndrome. METHOD:We conducted a 10-year retrospective study of infants (including all infants younger than 18mo) treated with felbamate for electroencephalography-recorded epileptic spasms persisting after first-line treatment. RESULTS:In total, 29 infants (17 males, 12 females) were included in the study. Felbamate ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2019, :]

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Benign spasms of infancy: a mimicker of infantile epileptic disorders.

Jamie Ghossein, Daniela Pohl,

Benign spasms of infancy (BSI), previously described as benign non-epileptic infantile spasms or benign myoclonus of early infancy, are non-epileptic movements manifesting during the first year of life and spontaneously resolving in the second year of life. BSI are characterized by spasms typically lasting 1-2 seconds, involving, to varying degrees, ... Read more >>

Epileptic Disord (Epileptic disorders : international epilepsy journal with videotape)
[2019, 21(6):585-589]

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Utility of Seizure Pattern and Related Clinical Features in the Diagnosis of Neurometabolic Disorders.

Narjes Jafari, Asieh Mosallanejad, Asieh Ghobadifar, Parvaneh Karimzadeh, Robabeh Ghodssi Ghassemabadi, Mohammadmehdi Nasehi, Marjan Shakiba, Shahrzad Tabatabaee,

Objectives:The current study aimed at identifying the role of seizure types and related clinical features in differentiation between neurometabolic disorders and other causes of seizure. Materials & Methods:The current cross sectional study was conducted at two referral children hospitals in Tehran, Iran, from 2011 to 2018. The study population included ... Read more >>

Iran J Child Neurol (Iranian journal of child neurology)
[2020, 14(1):123-132]

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Etiologic classification of infantile spasms using positron emission/magnetic resonance imaging and the efficacy of adrenocorticotropic hormone therapy.

Haodan Dang, Liping Zou, Jiahe Tian, Jiajin Liu, Xiang Feng, Mu Lin, Baixuan Xu,

PURPOSE:The aim of this study was to investigate if the etiologic classification of infantile spasm (IS) using positron emission tomography/magnetic resonance imaging (PET/MR) is feasible. Based on the classified etiologic groups, we further evaluated the efficacy of adrenocorticotropic hormone (ACTH) therapy in different IS groups. MATERIALS AND METHODS:One hundred fifty-five ... Read more >>

Eur. J. Nucl. Med. Mol. Imaging (European journal of nuclear medicine and molecular imaging)
[2020, :]

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Genotype-phenotype correlation on 45 individuals with West syndrome.

Ilona Krey, Janna Krois-Neudenberger, Julia Hentschel, Steffen Syrbe, Tilman Polster, Britta Hanker, Barbara Fiedler, Gerhardt Kurlemann, Johannes R Lemke,

West syndrome is an epilepsy syndrome characterized by repetitive epileptic spasms (ES) and hypsarrhythmia, typically leading to developmental delay/intellectual disability (DD/ID). It is considered a classic epileptic encephalopathy (EE). We designed a diagnostic sequencing panel targeting 131 genes associated with epilepsy and/or EE and screened a cohort of 45 individuals ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2019, :]

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Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Hua Li, Fang Fang, Manting Xu, Zhimei Liu, Ji Zhou, Xiaohui Wang, Xiaofei Wang, Tongli Han,

Epileptic encephalopathy, caused by mutations in the dynamin-1 (DNM1; NM_004408) gene, is a newly identified neurologic disorder in children. Thus far, the full clinical and electroencephalographic features of children with DNM1 mutation-related epileptic encephalopathy have not been established. The aim of this study is to characterize the phenotypic, genetic, and ... Read more >>

Front Pharmacol (Frontiers in Pharmacology)
[2019, 10:1454]

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