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Benign Neonatal Epilepsy

MedGen UID:
82856
•Concept ID:
C0270851
•
Disease or Syndrome
Synonyms: Benign Neonatal Convulsion; Benign Neonatal Convulsions; Benign Neonatal Epilepsies; Benign Neonatal-Infantile Epilepsies; Benign Neonatal-Infantile Epilepsy; Convulsion, Benign Neonatal; Convulsions, Benign Neonatal; Epilepsies, Benign Neonatal; Epilepsies, Benign Neonatal-Infantile; Epilepsy, Benign Neonatal; Epilepsy, Benign Neonatal Infantile; Epilepsy, Benign Neonatal-Infantile; Neonatal Convulsion, Benign; Neonatal Convulsions, Benign; Neonatal Epilepsies, Benign; Neonatal Epilepsy, Benign; Neonatal-Infantile Epilepsies, Benign; Neonatal-Infantile Epilepsy, Benign
SNOMED CT: Benign neonatal seizures (38281008); Benign neonatal convulsions (38281008)

Definition

An inherited or sporadic disorder characterized by epileptic seizures in the first four to six weeks of life. The seizures tend to subside after the fifteenth week of life. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Benign Neonatal Epilepsy

Professional guidelines

PubMed

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee, Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A
Lancet Neurol 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. PMID: 37596007
Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.
Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067Free PMC Article
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126

Recent clinical studies

Etiology

KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R, Criscione R, Cimino C, Pisani F, Ruggieri M
Neuropediatrics 2023 Oct;54(5):297-307. Epub 2023 Mar 22 doi: 10.1055/a-2060-4576. PMID: 36948217
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM
Epilepsia 2021 Mar;62(3):615-628. Epub 2021 Feb 1 doi: 10.1111/epi.16815. PMID: 33522601
Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.
Sharpe C, Reiner GE, Davis SL, Nespeca M, Gold JJ, Rasmussen M, Kuperman R, Harbert MJ, Michelson D, Joe P, Wang S, Rismanchi N, Le NM, Mower A, Kim J, Battin MR, Lane B, Honold J, Knodel E, Arnell K, Bridge R, Lee L, Ernstrom K, Raman R, Haas RH; NEOLEV2 INVESTIGATORS
Pediatrics 2020 Jun;145(6) Epub 2020 May 8 doi: 10.1542/peds.2019-3182. PMID: 32385134Free PMC Article
Genetics of idiopathic epilepsies.
Hirose S, Mitsudome A, Okada M, Kaneko S; Epilepsy Genetic Study Group, Japan
Epilepsia 2005;46 Suppl 1:38-43. doi: 10.1111/j.0013-9580.2005.461011.x. PMID: 15816978
Ion channels and epilepsy.
Lerche H, Jurkat-Rott K, Lehmann-Horn F
Am J Med Genet 2001 Summer;106(2):146-59. doi: 10.1002/ajmg.1582. PMID: 11579435

Diagnosis

The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.
Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM
Epilepsia 2021 Mar;62(3):615-628. Epub 2021 Feb 1 doi: 10.1111/epi.16815. PMID: 33522601
Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.
Sharpe C, Reiner GE, Davis SL, Nespeca M, Gold JJ, Rasmussen M, Kuperman R, Harbert MJ, Michelson D, Joe P, Wang S, Rismanchi N, Le NM, Mower A, Kim J, Battin MR, Lane B, Honold J, Knodel E, Arnell K, Bridge R, Lee L, Ernstrom K, Raman R, Haas RH; NEOLEV2 INVESTIGATORS
Pediatrics 2020 Jun;145(6) Epub 2020 May 8 doi: 10.1542/peds.2019-3182. PMID: 32385134Free PMC Article
Electroencephalography in neonatal epilepsies.
Okumura A
Pediatr Int 2020 Sep;62(9):1019-1028. doi: 10.1111/ped.14227. PMID: 32153072
Monogenic idiopathic epilepsies.
Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E
Lancet Neurol 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. PMID: 15039033
Inherited epilepsies.
Walsh LE, McCandless D
Semin Pediatr Neurol 2001 Sep;8(3):165-76. doi: 10.1053/spen.2001.26450. PMID: 11575846

Therapy

Clinical characteristics of KCNQ2 encephalopathy.
Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Brain Dev 2021 Feb;43(2):244-250. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.015. PMID: 32917465
Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.
Sharpe C, Reiner GE, Davis SL, Nespeca M, Gold JJ, Rasmussen M, Kuperman R, Harbert MJ, Michelson D, Joe P, Wang S, Rismanchi N, Le NM, Mower A, Kim J, Battin MR, Lane B, Honold J, Knodel E, Arnell K, Bridge R, Lee L, Ernstrom K, Raman R, Haas RH; NEOLEV2 INVESTIGATORS
Pediatrics 2020 Jun;145(6) Epub 2020 May 8 doi: 10.1542/peds.2019-3182. PMID: 32385134Free PMC Article
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, Taglialatela M, Oldham MS, Vigevano F, Holmes GL, Cilio MR
Epilepsia 2016 Dec;57(12):2019-2030. Epub 2016 Nov 26 doi: 10.1111/epi.13596. PMID: 27888506
Neonatal seizures-part 2: Aetiology of acute symptomatic seizures, treatments and the neonatal epilepsy syndromes.
Hart AR, Pilling EL, Alix JJ
Arch Dis Child Educ Pract Ed 2015 Oct;100(5):226-32. Epub 2015 Mar 30 doi: 10.1136/archdischild-2014-306388. PMID: 25824891
Monogenic idiopathic epilepsies.
Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E
Lancet Neurol 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. PMID: 15039033

Prognosis

Clinical characteristics of KCNQ2 encephalopathy.
Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Brain Dev 2021 Feb;43(2):244-250. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.015. PMID: 32917465
Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
Sands TT, Balestri M, Bellini G, Mulkey SB, Danhaive O, Bakken EH, Taglialatela M, Oldham MS, Vigevano F, Holmes GL, Cilio MR
Epilepsia 2016 Dec;57(12):2019-2030. Epub 2016 Nov 26 doi: 10.1111/epi.13596. PMID: 27888506
Neonatal seizures-part 2: Aetiology of acute symptomatic seizures, treatments and the neonatal epilepsy syndromes.
Hart AR, Pilling EL, Alix JJ
Arch Dis Child Educ Pract Ed 2015 Oct;100(5):226-32. Epub 2015 Mar 30 doi: 10.1136/archdischild-2014-306388. PMID: 25824891
Benign convulsions in newborns and infants: occurrence, clinical course and prognosis.
Hrastovec A, Hostnik T, Neubauer D
Eur J Paediatr Neurol 2012 Jan;16(1):64-73. Epub 2011 Nov 23 doi: 10.1016/j.ejpn.2011.10.006. PMID: 22116015
Inherited epilepsies.
Walsh LE, McCandless D
Semin Pediatr Neurol 2001 Sep;8(3):165-76. doi: 10.1053/spen.2001.26450. PMID: 11575846

Clinical prediction guides

Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.
Goto A, Ishii A, Shibata M, Ihara Y, Cooper EC, Hirose S
Epilepsia 2019 Sep;60(9):1870-1880. Epub 2019 Aug 16 doi: 10.1111/epi.16314. PMID: 31418850
PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.
Okumura A, Shimojima K, Kurahashi H, Numoto S, Shimada S, Ishii A, Ohmori I, Takahashi S, Awaya T, Kubota T, Sakakibara T, Ishihara N, Hattori A, Torisu H, Tohyama J, Inoue T, Haibara A, Nishida T, Yuhara Y, Miya K, Tanaka R, Hirose S, Yamamoto T
Seizure 2019 Oct;71:1-5. Epub 2019 May 20 doi: 10.1016/j.seizure.2019.05.017. PMID: 31154286
Benign infantile seizures.
Mishra D, Nikunj NK, Juneja M, Talukdar B
Indian Pediatr 2015 Feb;52(2):151-2. doi: 10.1007/s13312-015-0592-3. PMID: 25691188
Benign convulsions in newborns and infants: occurrence, clinical course and prognosis.
Hrastovec A, Hostnik T, Neubauer D
Eur J Paediatr Neurol 2012 Jan;16(1):64-73. Epub 2011 Nov 23 doi: 10.1016/j.ejpn.2011.10.006. PMID: 22116015
Ion channel variation causes epilepsies.
Moulard B, Picard F, le Hellard S, Agulhon C, Weiland S, Favre I, Bertrand S, Malafosse A, Bertrand D
Brain Res Brain Res Rev 2001 Oct;36(2-3):275-84. doi: 10.1016/s0165-0173(01)00104-7. PMID: 11690625

Recent systematic reviews

KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.
Falsaperla R, Criscione R, Cimino C, Pisani F, Ruggieri M
Neuropediatrics 2023 Oct;54(5):297-307. Epub 2023 Mar 22 doi: 10.1055/a-2060-4576. PMID: 36948217
Anticonvulsants for neonates with seizures.
Booth D, Evans DJ
Cochrane Database Syst Rev 2004 Oct 18;(4):CD004218. doi: 10.1002/14651858.CD004218.pub2. PMID: 15495087

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