Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: Causal or chance association

2013 ◽  
Vol 164 (1) ◽  
pp. 186-189 ◽  
Author(s):  
Rekha Gupta ◽  
Meenal Agarwal ◽  
Vijay R. Boqqula ◽  
Rajendra V. Phadke ◽  
Shubha R. Phadke
Keyword(s):  
Epilepsy Syndrome

FIRES (febrile infection-related epilepsy syndrome) partially responsive to magnesium and dextromethorphan treatment

2012 ◽  
Vol 43 (02) ◽  
Author(s):  
M Häusler ◽  
M Schoberer ◽  
A van Baalen ◽  
J Weis ◽  
T Orlikowsky ◽  
...  
Keyword(s):  
Epilepsy Syndrome

scholarly journals Febrile infection-related epilepsy syndrome treated with anakinra

2016 ◽  
Vol 80 (6) ◽  
pp. 939-945 ◽  
Author(s):  
Daniel L. Kenney-Jung ◽  
Annamaria Vezzani ◽  
Robert J. Kahoud ◽  
Reghann G. LaFrance-Corey ◽  
Mai-Lan Ho ◽  
...  
Keyword(s):  
Epilepsy Syndrome

scholarly journals How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries

2021 ◽  
pp. 153575972199832
Author(s):  
Karnig Kazazian ◽  
Marissa Kellogg ◽  
Nora Wong ◽  
Krista Eschbach ◽  
Raquel Farias Moeller ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Refractory Status Epilepticus ◽  
Epilepsy Syndrome ◽  
Neurologic Disorder ◽  
Mortality And Morbidity ◽  
Refractory Status ◽  
Rigorous Research ◽  
Active Epilepsy ◽  
New Onset

New-onset refractory status epilepticus (NORSE) is a rare clinical presentation of refractory status epilepticus (RSE) that occurs in people without active epilepsy or preexisting neurologic disorder. Febrile infection-related epilepsy syndrome (FIRES) is a subcategory of NORSE. New-onset refractory status epilepticus/FIRES are becoming increasingly recognized; however, information pertaining to disease course, clinical outcomes, and survivorship remains limited, and mortality and morbidity are variable, but often high. The objective of the NORSE/FIRES Family Registry is to (1) provide an easily accessible and internationally available multilingual registry into which survivors or NORSE/FIRES surrogates or family members of people affected by NORSE/FIRES or their physicians can enter data in a systematic and rigorous research study from anywhere in the world where internet is available; and (2) to examine past medical history, outcomes, and quality of life for people affected by NORSE/FIRES.

Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report

2020 ◽  
Author(s):  
Shimpei Baba ◽  
Tohru Okanishi ◽  
Koichi Ohsugi ◽  
Rika Suzumura ◽  
Keiko Niimi ◽  
...  
Keyword(s):  
Continuous Infusion ◽  
Ketogenic Diet ◽  
Epilepsy Syndrome ◽  
High Dose ◽  
Early Administration ◽  
Chronic Epilepsy ◽  
Time Period ◽  
Irreversible Brain Damage ◽  
Electroencephalogram Eeg

AbstractWe describe the efficacy of high-dose barbiturates and early administration of a parenteral ketogenic diet (KD) as initial treatments for acute status epilepticus (SE) in an 8-year-old girl with febrile infection-related epilepsy syndrome (FIRES). The patient was admitted to our hospital with refractory focal SE. Abundant epileptic discharges over the left frontal region were observed on electroencephalogram (EEG). Treatment with continuous infusion of thiamylal for 4 hours, increased incrementally to 40 mg/kg/h, successfully ended the clinical SE, and induced a burst-suppression coma. The infusion rate was then gradually decreased to 4 mg/kg/h over the next 12 hours. Parenteral KD was administered from days 6 to 21 of illness. Continuous infusion of thiamylal was switched to midazolam on day 10 without causing seizures or EEG exacerbations. The patient has remained seizure free in the 15 months since hospital discharge. The effectiveness of KD for the treatment of FIRES has attracted attention amongst clinicians, but KD treatment may need to last for 2 to 4 days before it can stop SE, a time period that could cause irreversible brain damage. Considering the severity of SE in our patient and the dose of barbiturates needed to treat it, we consider this case to have had a good clinical outcome. The results suggest that rapid termination of seizure using high-dose barbiturates in conjunction with early administration of parenteral KD could reduce the development of chronic epilepsy in patients with FIRES.

scholarly journals Towards a Treatment for Neuroinflammation in Epilepsy: Interleukin-1 Receptor Antagonist, Anakinra, as a Potential Treatment in Intractable Epilepsy

2021 ◽  
Vol 22 (12) ◽  
pp. 6282
Author(s):  
Gaku Yamanaka ◽  
Yu Ishida ◽  
Kanako Kanou ◽  
Shinji Suzuki ◽  
Yusuke Watanabe ◽  
...  
Keyword(s):  
Receptor Antagonist ◽  
Small Sample Size ◽  
Interleukin 1 ◽  
Intractable Epilepsy ◽  
Evidence Base ◽  
Small Sample ◽  
Epilepsy Syndrome ◽  
Interleukin 1 Receptor Antagonist ◽  
Epileptic Syndromes ◽  
Systemic Symptoms

Febrile Infection-Related Epilepsy Syndrome (FIRES) is a unique catastrophic epilepsy syndrome, and the development of drug-resistant epilepsy (DRE) is inevitable. Recently, anakinra, an interleukin-1 receptor antagonist (IL-1RA), has been increasingly used to treat DRE due to its potent anticonvulsant activity. We here summarized its effects in 38 patients (32 patients with FIRES and six with DRE). Of the 22 patients with FIRES, 16 (73%) had at least short-term seizure control 1 week after starting anakinra, while the remaining six suspected anakinra-refractory cases were male and had poor prognoses. Due to the small sample size, an explanation for anakinra refractoriness was not evident. In all DRE patients, seizures disappeared or improved, and cognitive function improved in five of the six patients following treatment. Patients showed no serious side effects, although drug reactions with eosinophilia and systemic symptoms, cytopenia, and infections were observed. Thus, anakinra has led to a marked improvement in some cases, and functional deficiency of IL-1RA was indicated, supporting a direct mechanism for its therapeutic effect. This review first discusses the effectiveness of anakinra for intractable epileptic syndromes. Anakinra could become a new tool for intractable epilepsy treatment. However, it does not currently have a solid evidence base.

scholarly journals DNM1 encephalopathy

Neurology ◽  
2017 ◽  
Vol 89 (4) ◽  
pp. 385-394 ◽  
Author(s):  
Sarah von Spiczak ◽  
Katherine L. Helbig ◽  
Deepali N. Shinde ◽  
Robert Huether ◽  
Manuela Pendziwiat ◽  
...  
Keyword(s):  
Functional Data ◽  
De Novo ◽  
Structural Modeling ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Global Developmental Delay ◽  
Epilepsy Syndrome ◽  
De Novo Mutations ◽  
Phenotypic Data ◽  
Phenotypic Spectrum

Objective:To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.Methods:We reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.Results:We identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function.Conclusions:The phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.

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