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Benign neonatal seizures

MedGen UID:
65082
•Concept ID:
C0220669
•
Disease or Syndrome
Synonyms: Autosomal dominant form of benign neonatal seizures; Benign familial neonatal epilepsy; Benign familial neonatal seizures; Benign neonatal familial convulsions; Convulsions benign familial neonatal dominant form
SNOMED CT: Benign neonatal epilepsy (230410004); BFNC - Benign familial neonatal convulsions (230410004); Benign neonatal familial convulsions (230410004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Related genes: KCNQ3, KCNQ2
 
Monarch Initiative: MONDO:0016027
OMIM® Phenotypic series: PS121200
Orphanet: ORPHA1949

Definition

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
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

Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR; Neonatal Seizure Registry
Neurology 2017 Aug 29;89(9):893-899. Epub 2017 Jul 21 doi: 10.1212/WNL.0000000000004284. PMID: 28733343Free PMC Article
Epileptic seizures, epilepsy and epileptic syndromes in newborns: a nosological approach to 94 new cases by the 2001 proposed diagnostic scheme for people with epileptic seizures and with epilepsy.
Mastrangelo M, Van Lierde A, Bray M, Pastorino G, Marini A, Mosca F
Seizure 2005 Jul;14(5):304-11. doi: 10.1016/j.seizure.2005.04.001. PMID: 15871921
Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions.
Neubauer BA, Moises HW, Lässker U, Waltz S, Diebold U, Stephani U
Epilepsia 1997 Jul;38(7):782-7. doi: 10.1111/j.1528-1157.1997.tb01465.x. PMID: 9579905
Benign neonatal seizures.
Miles DK, Holmes GL
J Clin Neurophysiol 1990 Jul;7(3):369-79. doi: 10.1097/00004691-199007000-00004. PMID: 2211994
Dominant benign neonatal seizures.
Tibbles JA
Dev Med Child Neurol 1980 Oct;22(5):664-7. PMID: 7439556

Diagnosis

Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR; Neonatal Seizure Registry
Neurology 2017 Aug 29;89(9):893-899. Epub 2017 Jul 21 doi: 10.1212/WNL.0000000000004284. PMID: 28733343Free PMC Article
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM
Neurology 2012 Nov 20;79(21):2104-8. Epub 2012 Oct 17 doi: 10.1212/WNL.0b013e3182752c6c. PMID: 23077018Free PMC Article
KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2.
Ishii A, Miyajima T, Kurahashi H, Wang JW, Yasumoto S, Kaneko S, Hirose S
Epilepsy Res 2012 Nov;102(1-2):122-5. Epub 2012 Aug 10 doi: 10.1016/j.eplepsyres.2012.07.011. PMID: 22884718
Epileptic seizures, epilepsy and epileptic syndromes in newborns: a nosological approach to 94 new cases by the 2001 proposed diagnostic scheme for people with epileptic seizures and with epilepsy.
Mastrangelo M, Van Lierde A, Bray M, Pastorino G, Marini A, Mosca F
Seizure 2005 Jul;14(5):304-11. doi: 10.1016/j.seizure.2005.04.001. PMID: 15871921
Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions.
Neubauer BA, Moises HW, Lässker U, Waltz S, Diebold U, Stephani U
Epilepsia 1997 Jul;38(7):782-7. doi: 10.1111/j.1528-1157.1997.tb01465.x. PMID: 9579905

Prognosis

Profile of neonatal epilepsies: Characteristics of a prospective US cohort.
Shellhaas RA, Wusthoff CJ, Tsuchida TN, Glass HC, Chu CJ, Massey SL, Soul JS, Wiwattanadittakun N, Abend NS, Cilio MR; Neonatal Seizure Registry
Neurology 2017 Aug 29;89(9):893-899. Epub 2017 Jul 21 doi: 10.1212/WNL.0000000000004284. PMID: 28733343Free PMC Article
The spectrum of benign infantile seizures.
Specchio N, Vigevano F
Epilepsy Res 2006 Aug;70 Suppl 1:S156-67. Epub 2006 Jul 11 doi: 10.1016/j.eplepsyres.2006.01.018. PMID: 16837167
Benign neonatal seizures.
Miles DK, Holmes GL
J Clin Neurophysiol 1990 Jul;7(3):369-79. doi: 10.1097/00004691-199007000-00004. PMID: 2211994
Autosomal dominant benign neonatal seizures.
Cunniff C, Wiedlin N, Jones KL
Am J Med Genet 1988 Aug;30(4):963-6. doi: 10.1002/ajmg.1320300414. PMID: 3189416
Dominant benign neonatal seizures.
Tibbles JA
Dev Med Child Neurol 1980 Oct;22(5):664-7. PMID: 7439556

Clinical prediction guides

De Novo Variant in the KCNJ9 Gene as a Possible Cause of Neonatal Seizures.
Kochetkova TO, Maslennikov DN, Tolmacheva ER, Shubina J, Bolshakova AS, Suvorova DI, Degtyareva AV, Orlovskaya IV, Kuznetsova MV, Rachkova AA, Sukhikh GT, Rebrikov DV, Trofimov DY
Genes (Basel) 2023 Jan 31;14(2) doi: 10.3390/genes14020366. PMID: 36833293Free PMC Article
Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Hammer MF, Ishii A, Johnstone L, Tchourbanov A, Lau B, Sprissler R, Hallmark B, Zhang M, Zhou J, Watkins J, Hirose S
PLoS One 2017;12(7):e0180485. Epub 2017 Jul 7 doi: 10.1371/journal.pone.0180485. PMID: 28686619Free PMC Article
PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.
Scheffer IE, Grinton BE, Heron SE, Kivity S, Afawi Z, Iona X, Goldberg-Stern H, Kinali M, Andrews I, Guerrini R, Marini C, Sadleir LG, Berkovic SF, Dibbens LM
Neurology 2012 Nov 20;79(21):2104-8. Epub 2012 Oct 17 doi: 10.1212/WNL.0b013e3182752c6c. PMID: 23077018Free PMC Article
Benign childhood epilepsy with centrotemporal spikes and electroencephalography trait are not linked to EBN1 and EBN2 of benign neonatal familial convulsions.
Neubauer BA, Moises HW, Lässker U, Waltz S, Diebold U, Stephani U
Epilepsia 1997 Jul;38(7):782-7. doi: 10.1111/j.1528-1157.1997.tb01465.x. PMID: 9579905

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