Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

Rojo, D. Carranza; Harvey, A. Simon; Iona, Xenia; Dibbens, Leanne M.; Damiano, John A.; Arsov, Todor; Gill, Deepak; Freeman, Jeremy L.; Leventer, Richard J.; Vincent, Angela; Berkovic, Samuel F.; McMahon, Jacinta M.; Scheffer, Ingrid E.

doi:10.1016/j.eplepsyres.2012.02.007

Cited by 11 publications

(7 citation statements)

References 14 publications

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“…This is supported by a recent report of 10 patients with FIRES who were examined for mutations on sodium channel alpha1 subunit (SCN1A) and also for antibodies to voltage-gated potassium channel–associated proteins, and were found negative for both. 80 …”

Section: Other Encephalitis Associated With Epilepsy or Status Epilepmentioning

confidence: 99%

“…This is supported by a recent report of 10 patients with FIRES who were examined for mutations on sodium channel alpha1 subunit (SCN1A) and also for antibodies to voltagegated potassium channel-associated proteins, and were found negative for both. 80 A recent study of 10 children with unexplained encephalitis presenting with encephalopathy and status epilepticus showed that 4 patients had antibodies to protein complexes related to voltage-gated potassium channel (LGI1 and Caspr2 negative) without identifying the target antigen. Only 1 of these 4 patients responded to immunotherapy, suggesting that the antibodies were against intracellular epitopes or pathogenically unrelated to the disease.…”

Section: Hashimoto Encephalopathymentioning

confidence: 99%

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Autoimmune Encephalitis in Children

2012

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The causes of encephalitis are numerous, and extensive investigations for infectious agents and other etiologies are often negative. The discovery that many of these encephalitis are immune mediated has changed the approach to the diagnosis and treatment of these disorders. Moreover, the broad spectrum of symptoms including, psychosis, catatonia, alterations of behavior and memory, seizures, abnormal movements, and autonomic dysregulation usually requires a multidisciplinary treatment approach. This review focuses in several forms of encephalitis that occur in children, and for which an autoimmune etiology has been demonstrated (eg, anti-N-methyl-D-aspartate receptor encephalitis) or is strongly suspected (eg, Rasmussen encephalitis, limbic encephalitis, opsoclonus-myoclonus). The authors also review several disorders that may be immune mediated, such as the rapid onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) syndrome and some encephalopathies with fever and status epilepticus. Recognition of novel immune-mediated encephalitis is important because some of these disorders are highly responsive to immunotherapy.

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Section: Other Encephalitis Associated With Epilepsy or Status Epilepmentioning

confidence: 99%

Section: Hashimoto Encephalopathymentioning

confidence: 99%

Autoimmune Encephalitis in Children

2012

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“…An autoimmune reaction may, however, have a role in at least some cases of FIRES in which it may act as a trigger for a metabolic disease or channelopathy 25–27. Some case series reports showed no clear correlation between FIRES and SCN1A, PCDH19 or POLG1 gene mutations 28,29. In conclusion, however, the underlying pathogenic mechanism of FIRES seems to be a double-hit process: a synergistic effect between an immune response to a febrile illness or to an infection affecting the brain and an intrinsic predisposition toward an auto-sustaining epileptogenic process.…”

Section: Pathogenesismentioning

confidence: 99%

<p>Febrile infection-related epilepsy syndrome (FIRES): prevalence, impact and management strategies</p>

Serino¹,

Santarone²,

Caputo³

et al. 2019

NDT

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Febrile infection-related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy with a yet undefined etiology, affecting healthy children. It is characterized by acute manifestation of recurrent seizures or refractory status epilepticus preceded by febrile illness, but without evidence of infectious encephalitis. To date, the absence of specific biomarkers poses a significant diagnostic challenge; nonetheless, early diagnosis is very important for optimal management. FIRES is mostly irreversible and its sequelae include drug-resistant epilepsy and neuropsychological impairments. The treatment of FIRES represents a significant challenge for clinicians and is associated with low success rates. Early introduction of ketogenic diet seems to represent the most effective and promising treatment. This review aims to highlight the most recent insights on clinical features, terminology, epidemiology, pathogenesis, diagnostic challenges and therapeutic options.

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“…Further, an underlying predisposition as the result of genetic mutations appears unlikely. [52][53][54] Typically, children present following a nonspecific, febrile (in the majority) illness with escalating seizures, more often status epilepticus requiring barbiturate coma in the intensive care unit. Most patients experience focal seizures, reflected in the EEG.…”

Section: Febrile Infection-related Epilepsy Syndrome (Fires)mentioning

confidence: 99%

Rasmussen Syndrome and Other Inflammatory Epilepsies

Varadkar

Cross

2015

Semin Neurol

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An underlying immune basis is emerging in an increasing number of epileptic and encephalopathic syndromes. The immunopathological mechanisms may be categorized into antibody-mediated, T-cell cytotoxicity, and microglia-induced degeneration. The immune basis in Rasmussen syndrome is thought to be T-cell mediated. Antibodies to extracellular and intracellular epitopes are implicated in limbic and other encephalitides, characterized by seizures, movement disorder, sleep disorder, obtundation, psychosis, mutism, and other psychiatric symptoms. Extracellular antibodies are directed at cell-surface-expressed neuronal or glial proteins: glutamate receptors (N-methyl-D-aspartate and ?-amino-3-hydroxy-5-methyl-4-isoxazol-propionic acid), voltage-gated potassium channel complex (contactin-associated-protein 2 [CASPR2], contactin-2 and leucin-rich, glioma-inactivated 1 [LGI1]), and ?-aminobutyric acid (GABA) receptors (GABABR and GABAAR). Antibodies to intracellular antigens are less commonly seen (for example, glutamic acid decarboxylase). Diseases caused by antibodies to cell-surface-expressed antigens are better expected to respond to immune treatments than to those where the presumed mechanism is T-cell driven. Antibodies to the folate receptor FR1 are a cause of primary cerebral folate deficiency. Febrile infection-related epilepsy syndrome (FIRES) may also have an immune basis, although this is yet to be proven. For all these epilepsies, the best treatment and the long-term outcomes are not yet clear.

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Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations

Cited by 11 publications

References 14 publications

Autoimmune Encephalitis in Children

Autoimmune Encephalitis in Children

<p>Febrile infection-related epilepsy syndrome (FIRES): prevalence, impact and management strategies</p>

Rasmussen Syndrome and Other Inflammatory Epilepsies

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