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Benign Familial Convulsion

MedGen UID:
855174
•Concept ID:
C3889476
•
Disease or Syndrome
Synonym: Benign Familal Neonatal Seizures

Definition

A group of genetically-determined conditions characterized by a wide spectrum of seizure types occurring in otherwise healthy newborn infants that start during the first week of life and spontaneously disappear between the first and twelfth months of life. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBenign Familial Convulsion

Professional guidelines

PubMed

Neonatal Hyperbilirubinemia: Evaluation and Treatment.
Par EJ, Hughes CA, DeRico P
Am Fam Physician 2023 May;107(5):525-534. PMID: 37192079
International consensus on diagnosis and management of Dravet syndrome.
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
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

Recent clinical studies

Etiology

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Hebbar M, Al-Taweel N, Gill I, Boelman C, Dean RA, Goodchild SJ, Mezeyova J, Shuart NG, Johnson JP Jr, Lee J, Michoulas A, Huh LL, Armstrong L, Connolly MB, Demos MK
BMC Neurol 2024 Jan 17;24(1):31. doi: 10.1186/s12883-023-03478-y. PMID: 38233770Free PMC Article
Neonatal epilepsy genetics.
Axeen EJT, Olson HE
Semin Fetal Neonatal Med 2018 Jun;23(3):197-203. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.003. PMID: 29426807
Neonatal seizures and syndromes.
Tharp BR
Epilepsia 2002;43 Suppl 3:2-10. doi: 10.1046/j.1528-1157.43.s.3.11.x. PMID: 12060001
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
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

Best practices for the management of febrile seizures in children.
Ferretti A, Riva A, Fabrizio A, Bruni O, Capovilla G, Foiadelli T, Orsini A, Raucci U, Romeo A, Striano P, Parisi P
Ital J Pediatr 2024 May 12;50(1):95. doi: 10.1186/s13052-024-01666-1. PMID: 38735928Free PMC Article
International consensus on diagnosis and management of Dravet syndrome.
Wirrell EC, Hood V, Knupp KG, Meskis MA, Nabbout R, Scheffer IE, Wilmshurst J, Sullivan J
Epilepsia 2022 Jul;63(7):1761-1777. Epub 2022 May 12 doi: 10.1111/epi.17274. PMID: 35490361Free PMC Article
Sleep terrors-A parental nightmare.
Gigliotti F, Esposito D, Basile C, Cesario S, Bruni O
Pediatr Pulmonol 2022 Aug;57(8):1869-1878. Epub 2021 Mar 1 doi: 10.1002/ppul.25304. PMID: 33647192
Neonatal epilepsy genetics.
Axeen EJT, Olson HE
Semin Fetal Neonatal Med 2018 Jun;23(3):197-203. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.003. PMID: 29426807
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Therapy

Best practices for the management of febrile seizures in children.
Ferretti A, Riva A, Fabrizio A, Bruni O, Capovilla G, Foiadelli T, Orsini A, Raucci U, Romeo A, Striano P, Parisi P
Ital J Pediatr 2024 May 12;50(1):95. doi: 10.1186/s13052-024-01666-1. PMID: 38735928Free PMC Article
Febrile seizures.
Shinnar S, O'Dell C
Pediatr Ann 2004 Jun;33(6):394-401. doi: 10.3928/0090-4481-20040601-10. PMID: 19449514
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
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Febrile seizures. Recognition and management.
Smith MC
Drugs 1994 Jun;47(6):933-44. doi: 10.2165/00003495-199447060-00006. PMID: 7521832

Prognosis

Best practices for the management of febrile seizures in children.
Ferretti A, Riva A, Fabrizio A, Bruni O, Capovilla G, Foiadelli T, Orsini A, Raucci U, Romeo A, Striano P, Parisi P
Ital J Pediatr 2024 May 12;50(1):95. doi: 10.1186/s13052-024-01666-1. PMID: 38735928Free PMC Article
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM
Eur J Paediatr Neurol 2020 Jan;24:117-122. Epub 2019 Dec 12 doi: 10.1016/j.ejpn.2019.12.016. PMID: 31924505
Benign mesial temporal lobe epilepsy.
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F
Nat Rev Neurol 2011 Apr;7(4):237-40. Epub 2011 Jan 25 doi: 10.1038/nrneurol.2010.212. PMID: 21263461
Genes and mutations in idiopathic epilepsy.
Steinlein OK
Am J Med Genet 2001 Summer;106(2):139-45. doi: 10.1002/ajmg.1571. PMID: 11579434
Inherited epilepsies of childhood.
Buchhalter JR
J Child Neurol 1994 Oct;9 Suppl 1:S12-9. doi: 10.1177/0883073894009001041. PMID: 7822747

Clinical prediction guides

Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.
van der Veen S, Tse GTW, Ferretti A, Garone G, Post B, Specchio N, Fung VSC, Trivisano M, Scheffer IE
Neurology 2023 Nov 7;101(19):e1884-e1892. Epub 2023 Sep 25 doi: 10.1212/WNL.0000000000207808. PMID: 37748886Free PMC Article
The impact of COVID-19 in Dravet syndrome: A UK survey.
Balestrini S, Wilson G, Eldred C, Evans H, Sisodiya SM
Acta Neurol Scand 2021 Apr;143(4):389-395. Epub 2021 Feb 11 doi: 10.1111/ane.13405. PMID: 33570168Free PMC Article
The phenotypic spectrum of SCN2A-related epilepsy.
Reynolds C, King MD, Gorman KM
Eur J Paediatr Neurol 2020 Jan;24:117-122. Epub 2019 Dec 12 doi: 10.1016/j.ejpn.2019.12.016. PMID: 31924505
SCN1A variants from bench to bedside-improved clinical prediction from functional characterization.
Brunklaus A, Schorge S, Smith AD, Ghanty I, Stewart K, Gardiner S, Du J, Pérez-Palma E, Symonds JD, Collier AC, Lal D, Zuberi SM
Hum Mutat 2020 Feb;41(2):363-374. Epub 2019 Nov 28 doi: 10.1002/humu.23943. PMID: 31782251
Benign mesial temporal lobe epilepsy.
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F
Nat Rev Neurol 2011 Apr;7(4):237-40. Epub 2011 Jan 25 doi: 10.1038/nrneurol.2010.212. PMID: 21263461

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
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Nevitt SJ, Vraka K
Cochrane Database Syst Rev 2021 Jun 16;6(6):CD003031. doi: 10.1002/14651858.CD003031.pub4. PMID: 34131913Free PMC Article
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.
van den Ende T, Sharifi S, van der Salm SMA, van Rootselaar AF
Tremor Other Hyperkinet Mov (N Y) 2018;8:503. Epub 2018 Jan 23 doi: 10.7916/D85155WJ. PMID: 29416935Free PMC Article
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Cozijnsen MA, Nevitt SJ
Cochrane Database Syst Rev 2017 Feb 22;2(2):CD003031. doi: 10.1002/14651858.CD003031.pub3. PMID: 28225210Free PMC Article
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review.
Gunn IR, Gaffney D
Ann Clin Biochem 2004 Nov;41(Pt 6):441-58. doi: 10.1258/0004563042466802. PMID: 15588433

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