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Epilepsy, idiopathic generalized, susceptibility to, 17(EIG17)

MedGen UID:
1794141
•Concept ID:
C5561931
•
Finding
Synonym: EIG17
 
Gene (location): HCN2 (19p13.3)
 
Monarch Initiative: MONDO:0100519
OMIM®: 602477

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
•Concept ID:
C0009952
•
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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Atonic seizure
MedGen UID:
78735
•Concept ID:
C0270846
•
Disease or Syndrome
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
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Bilateral tonic-clonic seizure
MedGen UID:
141670
•Concept ID:
C0494475
•
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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Generalized tonic seizure
MedGen UID:
322935
•Concept ID:
C1836508
•
Disease or Syndrome
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.
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Recent clinical studies

Etiology

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK
Clin Genet 2021 Oct;100(4):412-429. Epub 2021 Jul 16 doi: 10.1111/cge.14023. PMID: 34216016
Electroclinical characteristics and syndromic associations of "eye-condition" related visual sensitive epilepsies-A cross-sectional study.
Karkare KD, Menon RN, Radhakrishnan A, Cherian A, Thomas SV
Seizure 2018 May;58:62-71. Epub 2018 Mar 30 doi: 10.1016/j.seizure.2018.03.027. PMID: 29665529
Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis.
Muhle H, von Spiczak S, Gaus V, Kara S, Helbig I, Hampe J, Franke A, Weber Y, Lerche H, Kleefuss-Lie AA, Elger CE, Schreiber S, Stephani U, Sander T
Epilepsy Res 2010 May;89(2-3):319-26. Epub 2010 Mar 24 doi: 10.1016/j.eplepsyres.2010.02.004. PMID: 20338729

Diagnosis

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK
Clin Genet 2021 Oct;100(4):412-429. Epub 2021 Jul 16 doi: 10.1111/cge.14023. PMID: 34216016
Electroclinical characteristics and syndromic associations of "eye-condition" related visual sensitive epilepsies-A cross-sectional study.
Karkare KD, Menon RN, Radhakrishnan A, Cherian A, Thomas SV
Seizure 2018 May;58:62-71. Epub 2018 Mar 30 doi: 10.1016/j.seizure.2018.03.027. PMID: 29665529
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia 2015 Feb;56(2):188-94. Epub 2014 Dec 8 doi: 10.1111/epi.12864. PMID: 25489633Free PMC Article
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG
J Neurogenet 2013 Jun;27(1-2):1-4. Epub 2013 Mar 25 doi: 10.3109/01677063.2013.772176. PMID: 23527921Free PMC Article
Electroencephalographic generalized features in idiopathic childhood focal epilepsies.
Yum MS, Ko TS, Lee EH, Jeong MH
Seizure 2010 May;19(4):222-5. Epub 2010 Mar 19 doi: 10.1016/j.seizure.2010.02.006. PMID: 20303800

Therapy

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
Clinical and electroencephalographic findings in early and late onset benign childhood epilepsy with occipital paroxysms.
Tsai ML, Lo HY, Chaou WT
Brain Dev 2001 Oct;23(6):401-5. doi: 10.1016/s0387-7604(01)00246-7. PMID: 11578851

Prognosis

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK
Clin Genet 2021 Oct;100(4):412-429. Epub 2021 Jul 16 doi: 10.1111/cge.14023. PMID: 34216016
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia 2015 Feb;56(2):188-94. Epub 2014 Dec 8 doi: 10.1111/epi.12864. PMID: 25489633Free PMC Article
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG
J Neurogenet 2013 Jun;27(1-2):1-4. Epub 2013 Mar 25 doi: 10.3109/01677063.2013.772176. PMID: 23527921Free PMC Article
Clinical and electroencephalographic findings in early and late onset benign childhood epilepsy with occipital paroxysms.
Tsai ML, Lo HY, Chaou WT
Brain Dev 2001 Oct;23(6):401-5. doi: 10.1016/s0387-7604(01)00246-7. PMID: 11578851

Clinical prediction guides

Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, Lesca G
Neurology 2024 Jan 23;102(2):e207945. Epub 2023 Dec 22 doi: 10.1212/WNL.0000000000207945. PMID: 38165337
Electroclinical characteristics and syndromic associations of "eye-condition" related visual sensitive epilepsies-A cross-sectional study.
Karkare KD, Menon RN, Radhakrishnan A, Cherian A, Thomas SV
Seizure 2018 May;58:62-71. Epub 2018 Mar 30 doi: 10.1016/j.seizure.2018.03.027. PMID: 29665529
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia 2015 Feb;56(2):188-94. Epub 2014 Dec 8 doi: 10.1111/epi.12864. PMID: 25489633Free PMC Article
Presence of epilepsy-associated variants in large exome databases.
Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG
J Neurogenet 2013 Jun;27(1-2):1-4. Epub 2013 Mar 25 doi: 10.3109/01677063.2013.772176. PMID: 23527921Free PMC Article
A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.
Kinirons P, Verlaan DJ, Dubé MP, Poirier J, Deacon C, Lortie A, Clément JF, Desbiens R, Carmant L, Cieuta-Walti C, Shevell M, Rouleau GA, Cossette P
Am J Med Genet A 2008 Mar 1;146A(5):578-84. doi: 10.1002/ajmg.a.32139. PMID: 18241056

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      OMIM records containing genes associated with phenotypes registered in MedGen
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