Infantile hemiconvulsion-hemiplegia epilepsy syndrome associated with GRIN2A gene mutation

Introduction. Infantile hemiconvulsion-hemiplegia and epilepsy (IHHE) syndrome is defined as a specific syndrome in a patient < 2 years of age, presenting as a new onset refractory status epilepticus with unilateral motor seizures and acute imaging abnormalities, fever, hemiparesis >24 hours, and excluding infectious encephalitis. Case outline. We present results of follow-up in 11 year-old girl with IHHE, associated with GRIN2A mutation. The girl had normal development until the first febrile hemiconvulsive status epilepticus at the age of seven months. Neuroimaging initially showed right hemisphere edema, followed by progressive right side hemiatrophy. The patient has resistant epilepsy, left side hemiparesis, and good language and cognitive development. Conclusion. Despite IHHE described many years ago, some syndrome's features, including etiology have remained unexplained. The association of IHHE and GRIN2A mutation is described in current manuscript for the first time in scientific literature.

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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

Epilepsy Currents ◽

10.1177/1535759721998329 ◽

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.

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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

Epilepsy Currents ◽

10.1177/15357597211002869 ◽

2021 ◽

pp. 153575972110028

Author(s):

Karnig Kazazian ◽

Marissa Kellogg ◽

Nora Wong ◽

Krista Eschbach ◽

Raquel Farias Moeller ◽

...

Keyword(s):

Status Epilepticus ◽

Refractory Status Epilepticus ◽

Epilepsy Syndrome ◽

Refractory Status ◽

New Onset

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New onset refractory status epilepticus research

Neurology ◽

10.1212/wnl.0000000000007322 ◽

2019 ◽

Vol 92 (17) ◽

pp. 802-810 ◽

Cited By ~ 8

Author(s):

Teneille E. Gofton ◽

Nicolas Gaspard ◽

Sara E. Hocker ◽

Tobias Loddenkemper ◽

Lawrence J. Hirsch

Keyword(s):

Status Epilepticus ◽

Professional Education ◽

Age Groups ◽

Refractory Status Epilepticus ◽

Epilepsy Syndrome ◽

Current State ◽

Refractory Status ◽

Management Approaches ◽

Active Epilepsy ◽

New Onset

New-onset refractory status epilepticus (NORSE) is a clinical presentation, not a specific diagnosis, in a patient without active epilepsy or other preexisting relevant neurologic disorder, with new onset of refractory status epilepticus (RSE) that does not resolve after 2 or more rescue medications, without a clear acute or active structural, toxic, or metabolic cause. Febrile infection-related epilepsy syndrome is a subset of NORSE in which fever began at least 24 hours prior to the RSE. Both terms apply to all age groups. Until recently, NORSE was a poorly recognized entity without a consistent definition or approach to care. We review the current state of knowledge in NORSE and propose a roadmap for future collaborative research. Research investigating NORSE should prioritize the following 4 domains: (1) clinical features, etiology, and pathophysiology; (2) treatment; (3) adult and pediatric evaluation and management approaches; and (4) public advocacy, professional education, and family support. We consider international collaboration and multicenter research crucial in achieving these goals.

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New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives

Epilepsia ◽

10.1111/epi.14022 ◽

2018 ◽

Vol 59 (4) ◽

pp. 745-752 ◽

Cited By ~ 61

Author(s):

Nicolas Gaspard ◽

Lawrence J. Hirsch ◽

Claudine Sculier ◽

Tobias Loddenkemper ◽

Andreas van Baalen ◽

...

Keyword(s):

Status Epilepticus ◽

State Of The Art ◽

Refractory Status Epilepticus ◽

Epilepsy Syndrome ◽

Refractory Status ◽

New Onset

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New‐onset refractory status epilepticus and febrile infection‐related epilepsy syndrome

Developmental Medicine & Child Neurology ◽

10.1111/dmcn.14553 ◽

2020 ◽

Vol 62 (8) ◽

pp. 897-905 ◽

Cited By ~ 1

Author(s):

Nicola Specchio ◽

Nicola Pietrafusa

Keyword(s):

Status Epilepticus ◽

Refractory Status Epilepticus ◽

Epilepsy Syndrome ◽

Refractory Status ◽

New Onset

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New-onset super-refractory status epilepticus

Neurology ◽

10.1212/wnl.0000000000010787 ◽

2020 ◽

Vol 95 (16) ◽

pp. e2280-e2285 ◽

Cited By ~ 1

Author(s):

Elizabeth Matthews ◽

Ayham Alkhachroum ◽

Nina Massad ◽

Riva Letchinger ◽

Kevin Doyle ◽

...

Keyword(s):

Status Epilepticus ◽

Medical Center ◽

Case Series ◽

Refractory Status Epilepticus ◽

Hospital Length Of Stay ◽

Post Discharge ◽

Refractory Status ◽

New Onset

ObjectiveTo better understand the heterogeneous population of patients with new-onset refractory status epilepticus (NORSE), we studied the most severe cases in patients who presented with new-onset super-refractory status epilepticus (NOSRSE).MethodsWe report a retrospective case series of 26 adults admitted to the Columbia University Irving Medical Center neurologic intensive care unit (NICU) from February 2009 to February 2016 with NOSRSE. We evaluated demographics, diagnostic studies, and treatment course. Outcomes were modified Rankin Scale score (mRS) at hospital discharge and most recent follow-up visit (minimum of 2 months post discharge), NICU and hospital length of stay, and long-term antiepileptic drug use.ResultsOf the 252 patients with refractory status epilepticus, 27/252 had NORSE and 26/27 of those had NOSRSE. Age was bimodally distributed with peaks at 27 and 63 years. The majority (96%) had an infectious or psychiatric prodrome. Etiology was cryptogenic in 73%, autoimmune in 19%, and infectious in 8%. Seven patients (27%) underwent brain biopsy, autopsy, or both; 3 (12%) were diagnostic (herpes simplex encephalitis, candida encephalitis, and acute demyelinating encephalomyelitis). On discharge, 6 patients (23%) had good or fair outcome (mRS 0–3). Of the patients with long-term follow-up data (median 9 months, interquartile range 2–22 months), 12 patients (71%) had mRS 0–3.ConclusionAmong our cohort, nearly all patients with NORSE had NOSRSE. The majority were cryptogenic with few antibody-positive cases identified. Neuropathology was diagnostic in 12% of cases. Although only 23% of patients had good or fair outcome on discharge, 71% met these criteria at follow-up.

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Lidocaine Treatment in Refractory Status Epilepticus Resulting from Febrile Infection-Related Epilepsy Syndrome: A Case Report and Follow-Up

Neuropediatrics ◽

10.1055/s-0034-1389898 ◽

2014 ◽

Vol 46 (01) ◽

pp. 065-068 ◽

Cited By ~ 2

Author(s):

Giorgio Capizzi ◽

Roberta Vittorini ◽

Francesca Torta ◽

Elena Rainò ◽

Alessandra Conio ◽

...

Keyword(s):

Case Report ◽

Status Epilepticus ◽

Refractory Status Epilepticus ◽

Epilepsy Syndrome ◽

Refractory Status

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New-onset refractory status epilepticus (NORSE)

Practical Neurology ◽

10.1136/practneurol-2020-002534 ◽

2021 ◽

Vol 21 (2) ◽

pp. 119-127

Author(s):

Laura Mantoan Ritter ◽

Lina Nashef

Keyword(s):

Status Epilepticus ◽

Immune Modulation ◽

Functional Disability ◽

Significant Risk ◽

Refractory Status Epilepticus ◽

Treatment Modalities ◽

Epilepsy Syndrome ◽

Refractory Status ◽

Interleukin Inhibitors ◽

New Onset

New-onset refractory status epilepticus and its subcategory febrile infection-related epilepsy syndrome are rare devastating clinical presentations in those without pre-existing relevant history, often in schoolchildren or young adults, without a clear cause on initial investigations. A cause is later identified in up to half of adults, but in many fewer children. Patients often require protracted intensive care and are at significant risk of dying. Functional disability is common and subsequent chronic epilepsy is the norm, but some people do have good outcomes, even after prolonged status epilepticus. Patients need prompt investigations and treatment. Anaesthetic and antiseizure medications are supplemented by other treatment modalities, including the ketogenic diet. Despite limited evidence, it is appropriate to try to modify the presumed underlying pathogenesis with immune modulation early, with a more recent focus on using interleukin inhibitors. Optimising management will require concerted multicentre international efforts.

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Febrile Infection-Related Epilepsy Syndrome

Journal of Pediatric Epilepsy ◽

10.1055/s-0039-1701035 ◽

2019 ◽

Vol 08 (03) ◽

pp. 083-092

Author(s):

Mandeep Rana ◽

Alcy R. Torres ◽

Kam Lun Hon ◽

Alexander K.C. Leung ◽

Rinat Jonas

Keyword(s):

Status Epilepticus ◽

Refractory Status Epilepticus ◽

Febrile Episode ◽

Epilepsy Syndrome ◽

Future Directions ◽

Refractory Status ◽

New Treatment ◽

A Minor ◽

Autoimmune Etiology ◽

New Onset

AbstractFebrile infection-related epilepsy syndrome (FIRES) is a subset or variant of new-onset refractory status epilepticus in children. FIRES is characterized by the occurrence of a febrile episode between 24 hours and 2 weeks before the onset of refractory status epilepticus. A infectious cause is rarely identified in FIRES and an inflammatory or autoimmune etiology is implied. Seizures in FIRES are very difficult to control, and treatments include antiepileptic drugs, ketogenic diet, intravenous immunoglobulin, plasmapheresis, and corticosteroid therapy. The prognosis for patients with FIRES is poor, and most children are left with refractory epilepsy and cognitive impairment. The new consensus guidelines on the terminology of FIRES and recent interest in new treatment approaches have been welcome developments for clinicians who face the challenge of diagnosing and managing status epilepticus in a previously healthy child that occurs following a minor febrile episode. This review aims to provide clinicians with an update on the current hypotheses for the etiology, pathogenesis, clinical evaluation, management, and future directions in the diagnosis and treatment of FIRES.

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