Details of Disease

General Information of Disease (ID: DISWNBHF)

• Disease Name: Benign neonatal seizures
• Synonyms: benign familial neonatal convulsions; benign neonatal convulsions; BFNS; benign familial neonatal epilepsy; seizures, benign familial neonatal; benign familial neonatal seizures; benign familial convulsions; familial neonatal seizures; benign familal neonatal seizures; benign familial convulsion
• Definition: 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.
• Disease Hierarchy:
  DISD715V: Hereditary neurological disease
  DISDOIT9: Neonatal period electroclinical syndrome
  DISH73EI: Neonatal epilepsy syndrome
  DISWNBHF: Benign neonatal seizures
• Disease Identifiers:
  MONDO ID: MONDO_0016027
  MESH ID: D020936
  UMLS CUI: C0220669
  MedGen ID: 65082
  Orphanet ID: 1949
  SNOMED CT ID: 1237571004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	TTPXI3S	Supportive	Autosomal dominant	[1]
KCNQ3	TTIVDM3	Supportive	Autosomal dominant	[2]
ATP1A2	TT5B6HJ	Strong	Genetic Variation	[3]
CHRNA4	TT4H1MQ	Strong	Genetic Variation	[4]
MC3R	TTNI91K	Strong	Genetic Variation	[5]
SCN2A	TTLJTUF	Strong	Biomarker	[6]
SCN8A	TT54ERL	Strong	GermlineCausalMutation	[7]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC5A11	DT2CAPQ	Strong	Genetic Variation	[8]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LGI4	OTZGS8BN	Disputed	Genetic Variation	[9]
KCNQ2	OT3CXQJT	Supportive	Autosomal dominant	[1]
KCNQ3	OTXVBEED	Supportive	Autosomal dominant	[2]
EFHC1	OTS9IBNE	Strong	Biomarker	[10]
PRRT2	OTCJUBDO	Strong	Genetic Variation	[11]
SCN1B	OTGD78J3	Strong	Biomarker	[12]

References

• [1] KCNQ2-Related Disorders. 2010 Apr 27 [updated 2022 May 19]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [2] KCNQ3-Related Disorders. 2014 May 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
• [3] Genetics of the epilepsies.Curr Opin Neurol. 2004 Apr;17(2):147-53. doi: 10.1097/00019052-200404000-00011.
• [4] A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.Epilepsia. 2006 May;47(5):851-9. doi: 10.1111/j.1528-1167.2006.00552.x.
• [5] Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.Mamm Genome. 1994 Aug;5(8):503-8. doi: 10.1007/BF00369320.
• [6] Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.Lancet. 2019 Feb 23;393(10173):758-767. doi: 10.1016/S0140-6736(18)32042-7. Epub 2019 Jan 31.
• [7] Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar;79(3):428-36. doi: 10.1002/ana.24580. Epub 2016 Feb 13.
• [8] New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.Gene. 2002 Feb 20;285(1-2):141-8. doi: 10.1016/s0378-1119(02)00416-x.
• [9] Positive association between benign familial infantile convulsions and LGI4.Brain Dev. 2010 Aug;32(7):538-43. doi: 10.1016/j.braindev.2009.09.006. Epub 2009 Oct 7.
• [10] The genetics of idiopathic generalized epilepsy: implications for the understanding of its aetiology.Mol Med Today. 1996 Apr;2(4):173-80. doi: 10.1016/1357-4310(96)88793-4.
• [11] Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.J Neurol Neurosurg Psychiatry. 2015 Jul;86(7):782-5. doi: 10.1136/jnnp-2014-309025. Epub 2015 Jan 16.
• [12] Study of the voltage-gated sodium channel beta 1 subunit gene (SCN1B) in the benign familial infantile convulsions syndrome (BFIC).Hum Mutat. 2000;16(2):139-42. doi: 10.1002/1098-1004(200008)16:2<139::AID-HUMU6>3.0.CO;2-J.