Absence status epilepticus in the postictal phase of a generalized tonic-clonic seizure as the potential final manifestation of a relapsing remitting genetic epilepsy syndrome

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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Mutational analysis of SCN2B, SCN3B and SCN4B in a large Chinese Han family with generalized tonic–clonic seizure

Neurological Sciences ◽

10.1007/s10072-010-0390-6 ◽

2010 ◽

Vol 31 (5) ◽

pp. 675-677 ◽

Cited By ~ 1

Author(s):

Yang Lu ◽

Weihua Yu ◽

Zhiqin Xi ◽

Zheng Xiao ◽

Xiaoqin Kou ◽

...

Keyword(s):

Mutational Analysis ◽

Clonic Seizure ◽

Tonic Clonic Seizure ◽

Chinese Han

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Ascending Tonic Clonic Seizure Syndrome after Percutaneous Vertebroplasty

Case Reports in Orthopedics ◽

10.1155/2015/870810 ◽

2015 ◽

Vol 2015 ◽

pp. 1-4

Author(s):

Guido Zarattini ◽

Adam Farrier ◽

Federico Sibona

Keyword(s):

Percutaneous Vertebroplasty ◽

Rare Complication ◽

Cement Leakage ◽

Clonic Seizure ◽

Tonic Clonic Seizure ◽

Leg Pain ◽

Compression Fractures ◽

First Case ◽

Seizure Syndrome ◽

Osteoporotic Compression Fractures

Background Context. Cement leakage is not a rare complication of vertebroplasty, but ascending tonic clonic seizure syndrome is exceptionally rare. We herein report the first case to our knowledge of this complication related to vertebroplasty.Purpose. We herein report the first case of ascending tonic clonic seizure syndrome following epidural cement leakage after percutaneous vertebroplasty in a patient with multiple osteoporotic compression fractures.Study Design. Case report.Methods. A 64-year-old woman with T8, T10, L2, and L4 osteoporotic compression fractures underwent percutaneous vertebroplasty using polymethylmethacrylate. 40 minutes after the procedure the patient started suffering back and leg pain, having repetitive myoclonic jerks lasting 15 seconds of the lower extremities, spasm of the back, dyspnea, sinus tachycardia, hypoxemia, and metabolic acidosis.Results. The patient recovered completely due to a combination of early effective resuscitation and considered definitive management.Conclusions. Percutaneous vertebroplasty with polymethylmethacrylate is relatively safe but has few dangerous complications, which should be prevented by a meticulous technique and excellent image quality.

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