Details of Disease

General Information of Disease (ID: DISF2TRU)

• Disease Name: Malignant migrating partial seizures of infancy
• Synonyms: MPSI; migrating partial epilepsy of infancy; MMPEI; MPEI; MMPSI; migrating Partial seizures in infancy; malignant migrating Partial seizures in infancy; migrating partial seizures of infancy; malignant migrating partial epilepsy of infancy
• Definition: A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.
• Disease Hierarchy:
  DISH73EI: Neonatal epilepsy syndrome
  DISF2TRU: Malignant migrating partial seizures of infancy
• Disease Identifiers:
  MONDO ID: MONDO_0017385
  UMLS CUI: C3494976
  MedGen ID: 782160
  Orphanet ID: 293181
  SNOMED CT ID: 784345005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	TTPXI3S	Supportive	Autosomal dominant	[1]
PLCB1	TTLPGU7	Supportive	Autosomal dominant	[2]
SCN2A	TTLJTUF	Supportive	Autosomal dominant	[1]
CLCN2	TT30NW6	Strong	Biomarker	[3]
IDUA	TT0IUKX	Strong	Genetic Variation	[4]
KCNQ3	TTIVDM3	Strong	Biomarker	[3]
PLCB1	TTLPGU7	Strong	Biomarker	[2]
SCN2A	TTLJTUF	Strong	Biomarker	[3]
KCNT1	TTGJFK1	Definitive	Genetic Variation	[5]

This Disease Is Related to 5 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A22	DTJCWP8	Limited	Genetic Variation	[6]
KCNT1	DTTHWCM	Supportive	Autosomal dominant	[7]
SCN1A	DTN0M1I	Supportive	Autosomal dominant	[8]
SLC12A5	DTD62VB	Supportive	Autosomal dominant	[9]
SLC25A22	DTJCWP8	Supportive	Autosomal dominant	[10]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNQ2	OT3CXQJT	Supportive	Autosomal dominant	[1]
KCNT1	OTIFGW9Z	Supportive	Autosomal dominant	[7]
PIGA	OT51UWUR	Supportive	Autosomal dominant	[1]
PLCB1	OT9HYT7A	Supportive	Autosomal dominant	[2]
SCN1A	OTJ9ZTYI	Supportive	Autosomal dominant	[8]
SCN2A	OTUSYE4Z	Supportive	Autosomal dominant	[1]
SLC12A5	OTBA2M8Y	Supportive	Autosomal dominant	[9]
SLC25A22	OTQGVI1N	Supportive	Autosomal dominant	[10]
TBC1D24	OTKZUSMD	Supportive	Autosomal dominant	[11]

References

• [1] The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619.
• [2] Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12.
• [3] Mutational scanning of potassium, sodium and chloride ion channels in malignant migrating partial seizures in infancy.Brain Dev. 2006 Mar;28(2):76-9. doi: 10.1016/j.braindev.2005.05.002. Epub 2005 Sep 15.
• [4] Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.J Clin Lab Anal. 2019 Oct;33(8):e22963. doi: 10.1002/jcla.22963. Epub 2019 Aug 6.
• [5] Three Cases of KCNT1 Mutations: Malignant Migrating Partial Seizures in Infancy with Massive Systemic to Pulmonary Collateral Arteries.J Pediatr. 2017 Dec;191:270-274. doi: 10.1016/j.jpeds.2017.08.057. Epub 2017 Oct 5.
• [6] Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.J Inherit Metab Dis. 2017 May;40(3):385-394. doi: 10.1007/s10545-017-0025-7. Epub 2017 Mar 2.
• [7] De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.
• [8] Novel SCN1A mutation in a proband with malignant migrating partial seizures of infancy. Arch Neurol. 2011 May;68(5):665-71. doi: 10.1001/archneurol.2011.98.
• [9] Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures. Nat Commun. 2015 Sep 3;6:8038. doi: 10.1038/ncomms9038.
• [10] SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec;74(6):873-82. doi: 10.1002/ana.23998.
• [11] Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12.