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Normal interictal EEG

MedGen UID:
335892
Concept ID:
C1843146
Finding
HPO: HP:0002372

Definition

Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. [from HPO]

Conditions with this feature

Seizures, benign familial infantile, 3
MedGen UID:
375105
Concept ID:
C1843140
Disease or Syndrome
Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764).
Infantile convulsions and choreoathetosis
MedGen UID:
356123
Concept ID:
C1865926
Disease or Syndrome
PRRT2-associated paroxysmal movement disorders (PRRT2-PxMD) include paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC), and hemiplegic migraine (HM). In addition, PRRT2 pathogenic variants have been identified in other childhood-onset movement disorders and different types of seizures, suggesting that the understanding of the spectrum of PRRT2-PxMD is still evolving. The paroxysmal attacks in PKD are characterized by dystonia, choreoathetosis, and less commonly ballismus. The seizures of BFIE are usually focal with or without generalization. Thirty percent of PRRT2-associated PKD is associated with BFIE and is referred to as PKD/IC.
Benign familial neonatal-infantile seizures 1
MedGen UID:
1638448
Concept ID:
C4551769
Disease or Syndrome
Benign familial infantile seizures (BFIS) is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with slow deviation of the head and eyes to 1 side and progressing to generalized motor arrest and hypotonia, apnea and cyanosis, and limb jerks. Seizures usually occur in clusters over a day or several days. The ictal EEG shows focal parietal-temporal activity, whereas the interictal EEG is normal. Concurrent and subsequent psychomotor and neurologic development are normal (Franzoni et al., 2005). See also benign familial neonatal seizures (BFNS1; 121200). Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Infantile Seizures The BFIS1 locus has been mapped to chromosome 19q. BFIS2 (605751) is caused by mutation in the PRRT2 gene on chromosome 16p11. BFIS3 (607745), which is caused by the mutations in the SCN2A gene (182390) on chromosome 2q24, has a slightly earlier age at onset and is sometimes termed benign familial 'neonatal-infantile' seizures. BFIS4 (612627) has been mapped to chromosome 1p. BFIS5 (617080) is caused by mutation in the SCN8A gene (600702) on chromosome 12q13. BFIS6 (see 610353) is caused by mutation in the CHRNA2 gene (118502) on chromosome 8p21.

Professional guidelines

PubMed

Gardella E, Møller RS
Epilepsia 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. PMID: 31904124
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445

Recent clinical studies

Etiology

Li L, Deng Y, Chen J, Xie L, Lan X, Hu Y, Hong S, Jiang L
Neurophysiol Clin 2023 Feb;53(1):102886. Epub 2023 Jun 7 doi: 10.1016/j.neucli.2023.102886. PMID: 37295040
Gardella E, Møller RS
Epilepsia 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. PMID: 31904124
Muniz J, Benbadis SR
Epilepsy Behav 2010 Aug;18(4):472-3. Epub 2010 Jul 14 doi: 10.1016/j.yebeh.2010.06.014. PMID: 20634145
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445
Tanabe T, Hara K, Kashiwagi M, Tamai H
Epilepsy Res 2006 Aug;70 Suppl 1:S185-9. Epub 2006 Jun 30 doi: 10.1016/j.eplepsyres.2006.02.007. PMID: 16814520

Diagnosis

Li L, Deng Y, Chen J, Xie L, Lan X, Hu Y, Hong S, Jiang L
Neurophysiol Clin 2023 Feb;53(1):102886. Epub 2023 Jun 7 doi: 10.1016/j.neucli.2023.102886. PMID: 37295040
Lo Giudice M, Ferlazzo E, Mammone N, Gasparini S, Cianci V, Pascarella A, Mammì A, Mandic D, Morabito FC, Aguglia U
Int J Environ Res Public Health 2022 Nov 26;19(23) doi: 10.3390/ijerph192315733. PMID: 36497808Free PMC Article
Gardella E, Møller RS
Epilepsia 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. PMID: 31904124
Tényi D, Gyimesi C, Kupó P, Horváth R, Bóné B, Barsi P, Kovács N, Simor T, Siegler Z, Környei L, Fogarasi A, Janszky J
Epilepsia 2017 Mar;58(3):356-362. Epub 2016 Dec 18 doi: 10.1111/epi.13644. PMID: 27988965
Muniz J, Benbadis SR
Epilepsy Behav 2010 Aug;18(4):472-3. Epub 2010 Jul 14 doi: 10.1016/j.yebeh.2010.06.014. PMID: 20634145

Therapy

Denis J, Villeneuve N, Cacciagli P, Mignon-Ravix C, Lacoste C, Lefranc J, Napuri S, Damaj L, Villega F, Pedespan JM, Moutton S, Mignot C, Doummar D, Lion-François L, Gataullina S, Dulac O, Martin M, Gueden S, Lesca G, Julia S, Cances C, Journel H, Altuzarra C, Ben Zeev B, Afenjar A, Barth M, Villard L, Milh M
Epilepsia 2019 May;60(5):845-856. Epub 2019 Apr 26 doi: 10.1111/epi.14727. PMID: 31026061
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445
Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC
Epilepsia 2003 May;44(5):701-7. doi: 10.1046/j.1528-1157.2003.05302.x. PMID: 12752470
van Rijckevorsel K, Saussu F, de Barsy T
Seizure 1995 Sep;4(3):237-9. doi: 10.1016/s1059-1311(05)80067-6. PMID: 7582660
Drake ME Jr, Pakalnis A, Hietter SA
Ohio Med 1989 Oct;85(10):815-7. PMID: 2586991

Prognosis

Li L, Deng Y, Chen J, Xie L, Lan X, Hu Y, Hong S, Jiang L
Neurophysiol Clin 2023 Feb;53(1):102886. Epub 2023 Jun 7 doi: 10.1016/j.neucli.2023.102886. PMID: 37295040
Varatharajah Y, Joseph B, Brinkmann B, Morita-Sherman M, Fitzgerald Z, Vegh D, Nair D, Burgess R, Cendes F, Jehi L, Worrell G
Epilepsia 2022 Jul;63(7):1630-1642. Epub 2022 Apr 22 doi: 10.1111/epi.17257. PMID: 35416285Free PMC Article
Zeki G, Ilker IH, Hidir UU, Zeki O
Neurologist 2010 Mar;16(2):109-12. doi: 10.1097/NRL.0b013e3181bd603c. PMID: 20220445
Tanabe T, Hara K, Kashiwagi M, Tamai H
Epilepsy Res 2006 Aug;70 Suppl 1:S185-9. Epub 2006 Jun 30 doi: 10.1016/j.eplepsyres.2006.02.007. PMID: 16814520
Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC
Epilepsia 2003 May;44(5):701-7. doi: 10.1046/j.1528-1157.2003.05302.x. PMID: 12752470

Clinical prediction guides

Varatharajah Y, Joseph B, Brinkmann B, Morita-Sherman M, Fitzgerald Z, Vegh D, Nair D, Burgess R, Cendes F, Jehi L, Worrell G
Epilepsia 2022 Jul;63(7):1630-1642. Epub 2022 Apr 22 doi: 10.1111/epi.17257. PMID: 35416285Free PMC Article
Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T
Brain 2008 Oct;131(Pt 10):2647-61. Epub 2008 Sep 12 doi: 10.1093/brain/awn197. PMID: 18790821
Tanabe T, Hara K, Kashiwagi M, Tamai H
Epilepsy Res 2006 Aug;70 Suppl 1:S185-9. Epub 2006 Jun 30 doi: 10.1016/j.eplepsyres.2006.02.007. PMID: 16814520
Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC
Epilepsia 2003 May;44(5):701-7. doi: 10.1046/j.1528-1157.2003.05302.x. PMID: 12752470

Recent systematic reviews

Tényi D, Gyimesi C, Kupó P, Horváth R, Bóné B, Barsi P, Kovács N, Simor T, Siegler Z, Környei L, Fogarasi A, Janszky J
Epilepsia 2017 Mar;58(3):356-362. Epub 2016 Dec 18 doi: 10.1111/epi.13644. PMID: 27988965

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