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Status epilepticus

MedGen UID:
505118
Concept ID:
CN001933
Finding
Synonyms: Generalized convulsive status epilepticus
 
HPO: HP:0002133

Definition

Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures. [from HPO]

Term Hierarchy

Conditions with this feature

Proline dehydrogenase deficiency
MedGen UID:
120645
Concept ID:
C0268529
Disease or Syndrome
Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). Genetic Heterogeneity of Hyperprolinemia See also hyperprolinemia type II (HYRPRO2; 239510), which is caused by mutation in the gene encoding pyrroline-5-carboxylate dehydrogenase (P5CDH, ALDH4A1; 606811) on chromosome 1p36.
Succinate-semialdehyde dehydrogenase deficiency
MedGen UID:
124340
Concept ID:
C0268631
Disease or Syndrome
Succinic semialdehyde dehydrogenase (SSADH) deficiency is characterized by psychomotor retardation, childhood-onset hypotonia, and ataxia. Seizures occur in more than 50% of affected individuals. Hyperkinetic behavior, aggression, self-injurious behaviors, hallucinations, and sleep disturbances have been reported in nearly half of all patients, and are common in older individuals. Basal ganglia signs such as choreoathetosis, dystonia, and myoclonus have been reported in a few individuals with earlier-onset, more severe disease. Involvement beyond the central nervous system has not been described.
Fumarase deficiency
MedGen UID:
87458
Concept ID:
C0342770
Disease or Syndrome
Fumarate hydratase deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and seizures. Dysmorphic facial features include frontal bossing, depressed nasal bridge, and widely spaced eyes. Many affected individuals are microcephalic. A spectrum of brain abnormalities are seen on magnetic resonance imaging, including cerebral atrophy, enlarged ventricles and generous extra-axial cerebral spinal fluid (CSF) spaces, delayed myelination for age, thinning of the corpus callosum, and an abnormally small brain stem. Brain malformations including bilateral polymicrogyria and absence of the corpus callosum can also be observed. Development is severely affected: most affected individuals are non-verbal and non-ambulatory, and many die during early childhood. Less severely affected individuals with moderate cognitive impairment and long-term survival have been reported.
Severe myoclonic epilepsy in infancy
MedGen UID:
148243
Concept ID:
C0751122
Disease or Syndrome
SCN1A-related seizure disorders encompass a spectrum that ranges from simple febrile seizures (FS) and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome (also known as severe myoclonic epilepsy in infancy [SMEI] or polymorphic myoclonic epilepsy in infancy [PMEI]) are usually associated with progressive dementia. Less commonly observed phenotypes include myoclonic-astatic epilepsy (MAE or Doose syndrome), Lennox-Gastaut syndrome (LGS), infantile spasms, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A-related seizure disorders can vary even within the same family.
Deficiency of beta-ureidopropionase
MedGen UID:
226944
Concept ID:
C1291512
Disease or Syndrome
Beta-ureidopropionase deficiency is a very rare autosomal recessive inborn error of metabolism due to a defect in pyrimidine degradation. Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development (Yaplito-Lee et al., 2008).
Amish infantile epilepsy syndrome
MedGen UID:
323005
Concept ID:
C1836824
Disease or Syndrome
Amish infantile epilepsy syndrome is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014).
Early infantile epileptic encephalopathy 9
MedGen UID:
338393
Concept ID:
C1848137
Disease or Syndrome
Pyridoxine-dependent epilepsy
MedGen UID:
340341
Concept ID:
C1849508
Disease or Syndrome
Pyridoxine-dependent epilepsy is characterized by intractable seizures that are not controlled with antiepileptic drugs but that respond both clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). Multiple types of clinical seizures have been reported in individuals with pyridoxine-dependent epilepsy. Dramatic presentations consisting of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Affected individuals may have electrographic seizures without clinical correlates. Infants with the classic neonatal presentation begin to experience seizures soon after birth. Atypical features include: late-onset seizures (age =3 years); seizures that initially respond to antiepileptic drugs and then become intractable; seizures during early life that do not respond to pyridoxine but that are then controlled with pyridoxine several months later; and prolonged seizure-free intervals (=5 1/2 months) that occur after pyridoxine discontinuation. Intellectual disability is common.
Juvenile myoclonic epilepsy
MedGen UID:
342587
Concept ID:
C1850778
Finding
Juvenile myoclonic epilepsy is a subtype of idiopathic generalized epilepsy (EIG; see 600669) affecting up to 26% of all individuals with EIG. Individuals with JME have afebrile seizures only, with onset in adolescence of myoclonic jerks. Myoclonic jerks occur usually in the morning (Janz and Durner, 1997). Genetic Heterogeneity of Juvenile Myoclonic Seizures Susceptibility to EJM can be conferred by variation in several other genes: EJM5 (611136), by variation in the GABRA1 gene (137160) on 5q34-q35; EJM6 (see 607682), by variation in the CACNB4 gene (601949) on 2q22-q23; EJM7 (see 613060), by variation in the GABRD gene (137163) on 1p36; and EJM8 (see 607628), by variation in the CLCN2 gene (600570) on 3q26. In addition, EJM loci have been identified by linkage analysis: EJM2 (see 604827) on 15q14, EJM3 (608816) on 6p21, EJM4 (611364) on 5q12-q14, and EJM9 (614280) on 2q33-q36.
Alpha-methylacyl-CoA racemase deficiency
MedGen UID:
348911
Concept ID:
C1858325
Disease or Syndrome
AMACR deficiency is a rare autosomal recessive peroxisomal disorder characterized by adult onset of variable neurodegenerative symptoms affecting the central and peripheral nervous systems. Features may include seizures, visual failure, sensorimotor neuropathy, spasticity, migraine, and white matter hyperintensities on brain imaging. Serum pristanic acid and C27 bile acid intermediates are increased (summary by Smith et al., 2010).
Epilepsy, nocturnal frontal lobe, type 2
MedGen UID:
351053
Concept ID:
C1864125
Disease or Syndrome
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by clusters of nocturnal motor seizures, which are often stereotyped and brief (5 seconds to 5 minutes). They vary from simple arousals from sleep to dramatic, often bizarre, hyperkinetic events with tonic or dystonic features. Affected individuals may experience aura. Retained awareness during seizures is common. A minority of individuals experience daytime seizures. Onset ranges from infancy to adulthood. About 80% of individuals develop ADNFLE in the first two decades of life; mean age of onset is ten years. Clinical neurologic examination is normal and intellect is usually preserved, but reduced intellect, psychiatric comorbidity, or cognitive deficits may occur. Within a family, the manifestations of the disorder may vary considerably. ADNFLE is lifelong but not progressive. As an individual reaches middle age, attacks may become milder and less frequent.
Ceroid lipofuscinosis neuronal 10
MedGen UID:
350481
Concept ID:
C1864669
Disease or Syndrome
The neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited, neurodegenerative, lysosomal storage disorders characterized by progressive intellectual and motor deterioration, seizures, and early death. Visual gvhmloss is a feature of most forms. Clinical phenotypes have been characterized traditionally according to the age of onset and order of appearance of clinical features into infantile, late-infantile, juvenile, adult, and Northern epilepsy (also known as progressive epilepsy with mental retardation [EPMR]). There is however genetic and allelic heterogeneity; a proposed new nomenclature and classification system has been developed to take into account both the responsible gene and the age at disease onset; for example, CLN1 disease, infantile onset and CLN1 disease, juvenile onset are both caused by mutations in PPT1 but with differing age of onset. The most prevalent NCLs are CLN3 disease, classic juvenile and CLN2 disease, classic late infantile (although prevalence varies by ethnicity and country of family origin): CLN2 disease, classic late infantile. The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and pyramidal signs. Visual impairment typically appears at age four to six years and rapidly progresses to light /dark awareness only. Life expectancy ranges from age six years to early teenage. CLN3 disease, classic juvenile. Onset is usually between ages four and ten years. Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign. Epilepsy with generalized tonic-clonic seizures and/or complex-partial seizures typically appears around age ten years. Life expectancy ranges from the late teens to the 30s. Other forms of NCL may present with behavior changes, epilepsy, visual impairment, or slowing of developmental progress and then loss of skills. The course may be extremely variable. Some genotype-phenotype information is available.
Congenital disorder of glycosylation type 2H
MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.
Polymicrogyria, bilateral occipital
MedGen UID:
390732
Concept ID:
C2675191
Disease or Syndrome
Polymicrogyria is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small. The name of this condition literally means too many (poly-) small (micro-) folds (-gyria) in the surface of the brain. Polymicrogyria can affect part of the brain or the whole brain. When the condition affects one side of the brain, researchers describe it as unilateral. When it affects both sides of the brain, it is described as bilateral. The signs and symptoms associated with polymicrogyria depend on how much of the brain, and which particular brain regions, are affected. Researchers have identified multiple forms of polymicrogyria. The mildest form is known as unilateral focal polymicrogyria. This form of the condition affects a relatively small area on one side of the brain. It may cause minor neurological problems, such as mild seizures that can be easily controlled with medication. Some people with unilateral focal polymicrogyria do not have any problems associated with the condition. Bilateral forms of polymicrogyria tend to cause more severe neurological problems. Signs and symptoms of these conditions can include recurrent seizures (epilepsy), delayed development, crossed eyes, problems with speech and swallowing, and muscle weakness or paralysis. The most severe form of the disorder, bilateral generalized polymicrogyria, affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult or impossible to control with medication. Polymicrogyria most often occurs as an isolated feature, although it can occur with other brain abnormalities. It is also a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum.
Early infantile epileptic encephalopathy 4
MedGen UID:
436917
Concept ID:
C2677326
Disease or Syndrome
Early infantile epileptic encephalopathy 11
MedGen UID:
462337
Concept ID:
C3150987
Disease or Syndrome
EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Coenzyme Q10 deficiency, primary, 3
MedGen UID:
766272
Concept ID:
C3553358
Disease or Syndrome
Alternating hemiplegia of childhood 2
MedGen UID:
766702
Concept ID:
C3553788
Disease or Syndrome
Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012). For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (104290).
Early infantile epileptic encephalopathy 14
MedGen UID:
767109
Concept ID:
C3554195
Disease or Syndrome
Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Epilepsy, nocturnal frontal lobe, 5
MedGen UID:
767220
Concept ID:
C3554306
Disease or Syndrome
Nocturnal frontal lobe epilepsy-5 is an autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of ENFL (summary by Heron et al., 2012). For a general description and a discussion of genetic heterogeneity of ENFL, see ENFL1 (600513).
Early infantile epileptic encephalopathy 16
MedGen UID:
815503
Concept ID:
C3809173
Disease or Syndrome
TBC1D24-related disorders comprise a continuum that includes the following recognized phenotypes: DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures): profound sensorineural hearing loss, onychodystrophy, osteodystrophy, intellectual disability/developmental delay, and seizures. Familial infantile myoclonic epilepsy (FIME): early-onset myoclonic seizures, focal epilepsy, dysarthria, and mild-to-moderate intellectual disability. Progressive myoclonus epilepsy (PME): action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16): epileptiform EEG abnormalities which themselves are believed to contribute to progressive disturbance in cerebral function. Autosomal recessive nonsyndromic hearing loss, DFNB86: profound prelingual deafness . Autosomal dominant nonsyndromic hearing loss, DFNA65: slowly progressive deafness with onset in the third decade, initially affecting the high frequencies.
Epileptic encephalopathy, childhood-onset
MedGen UID:
815608
Concept ID:
C3809278
Disease or Syndrome
Childhood-onset epileptic encephalopathy (EEOC) is a severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability (summary by Carvill et al., 2013).
Epileptic encephalopathy, early infantile, 19
MedGen UID:
816730
Concept ID:
C3810400
Disease or Syndrome

Recent clinical studies

Etiology

Teran F, Harper-Kirksey K, Jagoda A
Emerg Med Pract 2015 Jan;17(1):1-24; quiz 24-5. PMID: 25902572
Basha MM, Alqallaf A, Shah AK
Epilepsia 2015 Apr;56(4):e44-8. Epub 2015 Mar 11 doi: 10.1111/epi.12947. [Epub ahead of print] PMID: 25759241
Marchi NA, Novy J, Faouzi M, Stähli C, Burnand B, Rossetti AO
Crit Care Med 2015 May;43(5):1003-9. doi: 10.1097/CCM.0000000000000881. PMID: 25654177
Tsetsou S, Novy J, Rossetti AO
Epilepsia 2015 Mar;56(3):473-8. Epub 2015 Jan 10 doi: 10.1111/epi.12903. [Epub ahead of print] PMID: 25580861
Nagase H, Nishiyama M, Nakagawa T, Fujita K, Saji Y, Maruyama A
Pediatr Neurol 2014 Jul;51(1):78-84. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.021. [Epub ahead of print] PMID: 24830769

Diagnosis

Teran F, Harper-Kirksey K, Jagoda A
Emerg Med Pract 2015 Jan;17(1):1-24; quiz 24-5. PMID: 25902572
Sutter R, Kaplan PW, Marsch S, Hammel EM, Rüegg S, Ziai WC
Eur J Neurol 2015 Jan;22(1):79-85. Epub 2014 Aug 7 doi: 10.1111/ene.12531. [Epub ahead of print] PMID: 25104078
Cheng S
Epileptic Disord 2014 Dec;16(4):385-94. doi: 10.1684/epd.2014.0709. PMID: 25497575
Broomall E, Natale JE, Grimason M, Goldstein J, Smith CM, Chang C, Kanes S, Rogawski MA, Wainwright MS
Ann Neurol 2014 Dec;76(6):911-5. Epub 2014 Nov 11 doi: 10.1002/ana.24295. [Epub ahead of print] PMID: 25363147
Nagase H, Nishiyama M, Nakagawa T, Fujita K, Saji Y, Maruyama A
Pediatr Neurol 2014 Jul;51(1):78-84. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.021. [Epub ahead of print] PMID: 24830769

Therapy

Teran F, Harper-Kirksey K, Jagoda A
Emerg Med Pract 2015 Jan;17(1):1-24; quiz 24-5. PMID: 25902572
Sutter R, Kaplan PW, Marsch S, Hammel EM, Rüegg S, Ziai WC
Eur J Neurol 2015 Jan;22(1):79-85. Epub 2014 Aug 7 doi: 10.1111/ene.12531. [Epub ahead of print] PMID: 25104078
Broomall E, Natale JE, Grimason M, Goldstein J, Smith CM, Chang C, Kanes S, Rogawski MA, Wainwright MS
Ann Neurol 2014 Dec;76(6):911-5. Epub 2014 Nov 11 doi: 10.1002/ana.24295. [Epub ahead of print] PMID: 25363147
Holzer FJ, Seeck M, Korff CM
Expert Rev Neurother 2014 Oct;14(10):1181-202. Epub 2014 Sep 9 doi: 10.1586/14737175.2014.956457. [Epub ahead of print] PMID: 25201402
Nagase H, Nishiyama M, Nakagawa T, Fujita K, Saji Y, Maruyama A
Pediatr Neurol 2014 Jul;51(1):78-84. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.021. [Epub ahead of print] PMID: 24830769

Prognosis

Teran F, Harper-Kirksey K, Jagoda A
Emerg Med Pract 2015 Jan;17(1):1-24; quiz 24-5. PMID: 25902572
Marchi NA, Novy J, Faouzi M, Stähli C, Burnand B, Rossetti AO
Crit Care Med 2015 May;43(5):1003-9. doi: 10.1097/CCM.0000000000000881. PMID: 25654177
Sutter R, Kaplan PW, Marsch S, Hammel EM, Rüegg S, Ziai WC
Eur J Neurol 2015 Jan;22(1):79-85. Epub 2014 Aug 7 doi: 10.1111/ene.12531. [Epub ahead of print] PMID: 25104078
Holzer FJ, Seeck M, Korff CM
Expert Rev Neurother 2014 Oct;14(10):1181-202. Epub 2014 Sep 9 doi: 10.1586/14737175.2014.956457. [Epub ahead of print] PMID: 25201402
Nagase H, Nishiyama M, Nakagawa T, Fujita K, Saji Y, Maruyama A
Pediatr Neurol 2014 Jul;51(1):78-84. Epub 2014 Mar 4 doi: 10.1016/j.pediatrneurol.2014.02.021. [Epub ahead of print] PMID: 24830769

Clinical prediction guides

Basha MM, Alqallaf A, Shah AK
Epilepsia 2015 Apr;56(4):e44-8. Epub 2015 Mar 11 doi: 10.1111/epi.12947. [Epub ahead of print] PMID: 25759241
Marchi NA, Novy J, Faouzi M, Stähli C, Burnand B, Rossetti AO
Crit Care Med 2015 May;43(5):1003-9. doi: 10.1097/CCM.0000000000000881. PMID: 25654177
Tsetsou S, Novy J, Rossetti AO
Epilepsia 2015 Mar;56(3):473-8. Epub 2015 Jan 10 doi: 10.1111/epi.12903. [Epub ahead of print] PMID: 25580861
Sutter R, Kaplan PW, Marsch S, Hammel EM, Rüegg S, Ziai WC
Eur J Neurol 2015 Jan;22(1):79-85. Epub 2014 Aug 7 doi: 10.1111/ene.12531. [Epub ahead of print] PMID: 25104078
Holzer FJ, Seeck M, Korff CM
Expert Rev Neurother 2014 Oct;14(10):1181-202. Epub 2014 Sep 9 doi: 10.1586/14737175.2014.956457. [Epub ahead of print] PMID: 25201402

Recent systematic reviews

Teran F, Harper-Kirksey K, Jagoda A
Emerg Med Pract 2015 Jan;17(1):1-24; quiz 24-5. PMID: 25902572
Arik Y, Leijten FS, Seute T, Robe PA, Snijders TJ
BMC Neurol 2014 Jul 19;14:152. doi: 10.1186/1471-2377-14-152. [Epub ahead of print] PMID: 25037845Free PMC Article
Wilkes R, Tasker RC
Pediatr Crit Care Med 2014 Sep;15(7):632-9. doi: 10.1097/PCC.0000000000000173. PMID: 24901802
Yasiry Z, Shorvon SD
Seizure 2014 Mar;23(3):167-74. Epub 2013 Dec 25 doi: 10.1016/j.seizure.2013.12.007. [Epub ahead of print] PMID: 24433665
Sánchez Fernández I, Abend NS, Agadi S, An S, Arya R, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein DB, Goldstein JL, Goodkin HP, Hahn CD, Heinzen EL, Mikati MA, Peariso K, Pestian JP, Ream M, Riviello JJ Jr, Tasker RC, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG)
Seizure 2014 Feb;23(2):87-97. Epub 2013 Oct 16 doi: 10.1016/j.seizure.2013.10.004. [Epub ahead of print] PMID: 24183923

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