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Interictal epileptiform activity

MedGen UID:
869073
Concept ID:
C4023491
Finding
Synonym: Epileptiform EEG discharges
 
HPO: HP:0011182

Definition

Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Interictal epileptiform activity

Conditions with this feature

Unverricht-Lundborg syndrome
MedGen UID:
155923
Concept ID:
C0751785
Disease or Syndrome
Progressive myoclonic epilepsy type 1(EPM1) is a neurodegenerative disorder characterized by onset from age six to 15 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. Some years after the onset, ataxia, incoordination, intentional tremor, and dysarthria develop. Individuals with EPM1 are cognitively mostly within the normal range, but show emotional lability and depression. The epileptic seizures are usually well controlled by anti-seizure medication, but the myoclonic jerks are progressive, action activated, and treatment resistant, and can be severely disabling.
Agenesis of the corpus callosum with peripheral neuropathy
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
Syndromic X-linked intellectual disability 94
MedGen UID:
437111
Concept ID:
C2678051
Disease or Syndrome
A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has material basis in mutation in the GRIA3 gene on chromosome Xq25.
Christianson syndrome
MedGen UID:
394455
Concept ID:
C2678194
Disease or Syndrome
Christianson syndrome (referred to as CS in this GeneReview), an X-linked disorder, is characterized in males by cognitive dysfunction, behavioral disorder, and neurologic findings (e.g., seizures, ataxia, postnatal microcephaly, and eye movement abnormalities). Males with CS typically present with developmental delay, later meeting criteria for severe intellectual disability (ID). Behaviorally, autism spectrum disorder and hyperactivity are common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result in failure to thrive. Seizures, typically beginning before age three years, can include infantile spasms and tonic, tonic-clonic, myoclonic, and atonic seizures. Subsequently, regression (e.g., loss of ambulation and ability to feed independently) may occur. Manifestations in heterozygous females range from asymptomatic to mild ID and/or behavioral issues.
Epilepsy, familial adult myoclonic, 5
MedGen UID:
815704
Concept ID:
C3809374
Disease or Syndrome
Familial adult myoclonic epilepsy-5 is an autosomal recessive neurologic disorder characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor later in life. Some patients may also have neuropsychiatric abnormalities (summary by Stogmann et al., 2013).
Developmental and epileptic encephalopathy, 21
MedGen UID:
862867
Concept ID:
C4014430
Disease or Syndrome
Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by Alazami et al., 2014 and Alsahli et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
MedGen UID:
1615361
Concept ID:
C4540493
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (NDMSCA) is an autosomal recessive disorder characterized by severe global developmental delay with poor motor and intellectual function apparent soon after birth, as well as postnatal progressive microcephaly. Most patients develop early-onset, frequent, and often intractable seizures, compatible with an epileptic encephalopathy. Other features include poor feeding, poor overall growth, absent speech, poor or absent eye contact, inability to achieve walking, hypotonia, and peripheral spasticity. Brain imaging usually shows progressive cerebral atrophy, thin corpus callosum, and abnormalities in myelination. Death in childhood may occur (summary by Siekierska et al., 2019).
Intellectual disability, autosomal recessive 63
MedGen UID:
1648348
Concept ID:
C4748167
Mental or Behavioral Dysfunction
Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
MedGen UID:
1684879
Concept ID:
C5231486
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-15 (CDCBM15) is an autosomal recessive neurologic disorder characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development. Brain imaging shows variable malformation of cortical development on the lissencephaly spectrum, mainly pachygyria and thin corpus callosum (summary by Mitani et al., 2019). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
Diabetes mellitus, permanent neonatal 3
MedGen UID:
1717271
Concept ID:
C5394303
Disease or Syndrome
Permanent neonatal diabetes mellitus-3 (PNDM3) is characterized by the onset of mild to severe hyperglycemia within the first months of life, and requires lifelong therapy (summary by Babenko et al., 2006). Some patients also have neurologic features, including developmental delay and epilepsy (Proks et al., 2006; Babenko et al., 2006). The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND. For a discussion of genetic heterogeneity of permanent neonatal diabetes mellitus, see PNDM1 (606176).
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
MedGen UID:
1710110
Concept ID:
C5394312
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS) is an autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. Most patients develop early-onset intractable seizures that prevent normal development. Additional features include feeding difficulties with poor overall growth and microcephaly. Some patients may have spastic quadriplegia, poor eye contact due to cortical blindness, variable dysmorphic features, and nonspecific abnormalities on brain imaging (summary by Tan et al., 2020).
Periventricular nodular heterotopia 9
MedGen UID:
1718470
Concept ID:
C5394503
Disease or Syndrome
Periventricular nodular heterotopia-9 (PVNH9) is an autosomal dominant neurologic disorder characterized as a malformation of cortical development. Anterior predominant PVNH, thin corpus callosum, and decreased white matter volume are found on brain imaging, but the clinical effects are variable. Most patients have impaired intellectual development and cognitive defects associated with low IQ (range 50 to 80), learning disabilities, and behavior abnormalities. Some patients develop seizures that tend to have a focal origin. However, some mutation carriers may be less severely affected with borderline or even normal IQ, suggesting incomplete penetrance of the phenotype (summary by Heinzen et al., 2018, Walters et al., 2018). For a discussion of genetic heterogeneity of periventricular nodular heterotopia, see 300049.
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
MedGen UID:
1708579
Concept ID:
C5394517
Disease or Syndrome
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).
Neurodevelopmental disorder with or without early-onset generalized epilepsy
MedGen UID:
1737097
Concept ID:
C5436914
Disease or Syndrome
Neurodevelopmental disorder with or without early-onset generalized epilepsy (NEDEGE) is characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. About half of patients develop early-onset generalized epilepsy with different seizure types; myoclonic seizures and myoclonic-atonic epilepsy are commonly observed. The seizures may remit with age or remain refractory to treatment. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities (summary by Mulhern et al., 2018).
Intellectual developmental disorder, autosomal recessive 76
MedGen UID:
1808571
Concept ID:
C5677007
Mental or Behavioral Dysfunction
Autosomal recessive intellectual developmental disorder-76 (MRT76) is characterized by impaired intellectual development, absent speech, poor sleep, abnormal EEG with seizures, normal brain imaging, and precocious puberty (Ismail et al., 2022).
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities
MedGen UID:
1823970
Concept ID:
C5774197
Disease or Syndrome
Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (NEDSSBA) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech. Brain imaging may show developmental defects of the operculum, cerebellum, and corpus callosum. Death in early childhood may occur (Calame et al., 2021).
Muscular dystrophy, congenital, with or without seizures
MedGen UID:
1824047
Concept ID:
C5774274
Disease or Syndrome
Congenital muscular dystrophy with or without seizures (MYOS) is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features. Most patients develop seizures or have abnormal epileptiform findings on EEG studies; other variable findings may include feeding difficulties, nystagmus, myopathic facies, areflexia, and brain atrophy on MRI (summary by Larson et al., 2018 and Henige et al., 2021).

Professional guidelines

PubMed

Shariff EM, AlKhamis FA
Neurosciences (Riyadh) 2017 Apr;22(2):102-106. doi: 10.17712/nsj.2017.2.20160527. PMID: 28416780Free PMC Article
Connor DE Jr, Nixon M, Nanda A, Guthikonda B
Neurosurg Focus 2012 Mar;32(3):E12. doi: 10.3171/2011.12.FOCUS11328. PMID: 22380853

Recent clinical studies

Etiology

Andrzejak RG, Zaveri HP, Schulze-Bonhage A, Leguia MG, Stacey WC, Richardson MP, Kuhlmann L, Lehnertz K
Epilepsia 2023 Dec;64 Suppl 3(Suppl 3):S62-S71. Epub 2023 Mar 8 doi: 10.1111/epi.17546. PMID: 36780237Free PMC Article
Leguia MG, Andrzejak RG, Rummel C, Fan JM, Mirro EA, Tcheng TK, Rao VR, Baud MO
JAMA Neurol 2021 Apr 1;78(4):454-463. doi: 10.1001/jamaneurol.2020.5370. PMID: 33555292Free PMC Article
Milovanovic M, Radivojevic V, Radosavljev-Kircanski J, Grujicic R, Toskovic O, Aleksić-Hil O, Pejovic-Milovancevic M
Epilepsy Behav 2019 Mar;92:45-52. Epub 2019 Jan 3 doi: 10.1016/j.yebeh.2018.12.011. PMID: 30611007
Ghacibeh GA, Fields C
Epilepsy Behav 2015 Jun;47:158-62. Epub 2015 Apr 3 doi: 10.1016/j.yebeh.2015.02.025. PMID: 25847431
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100

Diagnosis

Hillebrand A, Holmes N, Sijsma N, O'Neill GC, Tierney TM, Liberton N, Stam AH, van Klink N, Stam CJ, Bowtell R, Brookes MJ, Barnes GR
Sci Rep 2023 Mar 21;13(1):4623. doi: 10.1038/s41598-023-31111-y. PMID: 36944674Free PMC Article
Andrzejak RG, Zaveri HP, Schulze-Bonhage A, Leguia MG, Stacey WC, Richardson MP, Kuhlmann L, Lehnertz K
Epilepsia 2023 Dec;64 Suppl 3(Suppl 3):S62-S71. Epub 2023 Mar 8 doi: 10.1111/epi.17546. PMID: 36780237Free PMC Article
Raga S, Specchio N, Rheims S, Wilmshurst JM
Epileptic Disord 2021 Feb 1;23(1):40-52. doi: 10.1684/epd.2021.1244. PMID: 33632673
Leguia MG, Andrzejak RG, Rummel C, Fan JM, Mirro EA, Tcheng TK, Rao VR, Baud MO
JAMA Neurol 2021 Apr 1;78(4):454-463. doi: 10.1001/jamaneurol.2020.5370. PMID: 33555292Free PMC Article
Milovanovic M, Radivojevic V, Radosavljev-Kircanski J, Grujicic R, Toskovic O, Aleksić-Hil O, Pejovic-Milovancevic M
Epilepsy Behav 2019 Mar;92:45-52. Epub 2019 Jan 3 doi: 10.1016/j.yebeh.2018.12.011. PMID: 30611007

Therapy

Vaiman E, Gayduk A, Strelnik A, Smirnova D, Davydkin I, Fedyashov I, Cumming P, Shnayder N, Nasyrova R
Psychiatr Danub 2022 Sep;34(Suppl 8):31-37. PMID: 36170698
Klotz KA, Grob D, Schönberger J, Nakamura L, Metternich B, Schulze-Bonhage A, Jacobs J
CNS Drugs 2021 Nov;35(11):1207-1215. Epub 2021 Oct 22 doi: 10.1007/s40263-021-00867-0. PMID: 34687005Free PMC Article
Leguia MG, Andrzejak RG, Rummel C, Fan JM, Mirro EA, Tcheng TK, Rao VR, Baud MO
JAMA Neurol 2021 Apr 1;78(4):454-463. doi: 10.1001/jamaneurol.2020.5370. PMID: 33555292Free PMC Article
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Bazil CW
Curr Opin Neurol 2000 Apr;13(2):171-5. doi: 10.1097/00019052-200004000-00010. PMID: 10987575

Prognosis

Jiruska P, Freestone D, Gnatkovsky V, Wang Y
Epilepsia 2023 Dec;64 Suppl 3:S13-S24. Epub 2023 Aug 2 doi: 10.1111/epi.17721. PMID: 37466948
Andrzejak RG, Zaveri HP, Schulze-Bonhage A, Leguia MG, Stacey WC, Richardson MP, Kuhlmann L, Lehnertz K
Epilepsia 2023 Dec;64 Suppl 3(Suppl 3):S62-S71. Epub 2023 Mar 8 doi: 10.1111/epi.17546. PMID: 36780237Free PMC Article
Vaiman E, Gayduk A, Strelnik A, Smirnova D, Davydkin I, Fedyashov I, Cumming P, Shnayder N, Nasyrova R
Psychiatr Danub 2022 Sep;34(Suppl 8):31-37. PMID: 36170698
Sánchez Fernández I, Loddenkemper T
J Clin Neurophysiol 2012 Oct;29(5):425-40. doi: 10.1097/WNP.0b013e31826bd943. PMID: 23027100
Kennedy JD, Schuele SU
J Clin Neurophysiol 2012 Oct;29(5):366-70. doi: 10.1097/WNP.0b013e31826bd78b. PMID: 23027092

Clinical prediction guides

Hillebrand A, Holmes N, Sijsma N, O'Neill GC, Tierney TM, Liberton N, Stam AH, van Klink N, Stam CJ, Bowtell R, Brookes MJ, Barnes GR
Sci Rep 2023 Mar 21;13(1):4623. doi: 10.1038/s41598-023-31111-y. PMID: 36944674Free PMC Article
Andrzejak RG, Zaveri HP, Schulze-Bonhage A, Leguia MG, Stacey WC, Richardson MP, Kuhlmann L, Lehnertz K
Epilepsia 2023 Dec;64 Suppl 3(Suppl 3):S62-S71. Epub 2023 Mar 8 doi: 10.1111/epi.17546. PMID: 36780237Free PMC Article
Vaiman E, Gayduk A, Strelnik A, Smirnova D, Davydkin I, Fedyashov I, Cumming P, Shnayder N, Nasyrova R
Psychiatr Danub 2022 Sep;34(Suppl 8):31-37. PMID: 36170698
Lenck-Santini PP, Sakkaki S
Curr Top Behav Neurosci 2022;55:65-106. doi: 10.1007/7854_2020_193. PMID: 33454922
Milovanovic M, Radivojevic V, Radosavljev-Kircanski J, Grujicic R, Toskovic O, Aleksić-Hil O, Pejovic-Milovancevic M
Epilepsy Behav 2019 Mar;92:45-52. Epub 2019 Jan 3 doi: 10.1016/j.yebeh.2018.12.011. PMID: 30611007

Recent systematic reviews

Cousyn L, Lambrecq V, Houot M, Shor N, Nguyen-Michel VH, Frazzini V, Dupont S, Demeret S, Navarro V
Epileptic Disord 2021 Dec 1;23(6):879-892. doi: 10.1684/epd.2021.1355. PMID: 34704941
McIntosh AM, Wilson SJ, Berkovic SF
Epilepsia 2001 Oct;42(10):1288-307. doi: 10.1046/j.1528-1157.2001.02001.x. PMID: 11737164

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