Table 2.

Other Disorders to Consider in the Differential Diagnosis of SLC12A5-EIMFS

DisorderGene 1MOIComments
Isolated EIMFS
EIEE43
(OMIM 617113)		GABRB3 2AD1 set of monozygotic twins
EIEE14
(OMIM 614959)		 KCNT1 AD 3Causes 30%-50% of EIMFS 4, 5, 6
EIEE12
(OMIM 613722)		PLCB1 7AR 81 individual 7
Progressive microcephaly
w/seizures & cerebral
& cerebellar atrophy
(OMIM 615760)		 QARS AR 82 individuals 9
SMC1A-related EIMFSSMC1A 10XL1 female infant
EIEE6 SCN1A 11, 12, 13, 14AD 33 individuals 11, 12, 13, 14
EIEE11
(OMIM 613721)		SCN2A 15, 16AD 3Severe movement disorder 4; otherwise indistinguishable from other causes of EIMFS
EIEE13 SCN8A 17AD 31 individual 17
EIEE3
(OMIM 609304)		SLC25A22 18AR 82 individuals 18
EIEE16 TBC1D24 19, 20AR 83 families 19, 20
EIMFS with multisystem abnormalities
ALG3-CDG
(CDG-Id) 21		ALG 22AR
  • Abnormalities: gastrointestinal problems, coagulopathy, dysmorphic facial features, spastic quadriparesis
  • Transferrin isoelectric focusing testing consistent w/CDG type I
  • On brain MRI: cerebellar atrophy in all; brain stem atrophy in 3/4
  • Note: Extensive metabolic investigation in EIMFS is usually unrevealing.
ALG1-CDG
(CDG-Ik) 21		ALG1 22
RFT1-CDG
(CDG-In) 21		RFT1 22

Adapted from "Supplementary Table 1: Genes Reported in Migrating Partial Seizures of Infancy (MPSI)" [Stödberg et al 2015]

AD = autosomal dominant; AR = autosomal recessive; CDG = congenital disorder of glycosylation; EIEE = early-infantile epileptic encephalopathy; EIMFS = epilepsy of infancy with migrating focal seizures; MOI = mode of inheritance; XL = X-linked

1.

Genes are in alphabetic order.

2.
3.

Typically de novo

4.
5.
6.
7.
8.

Autosomal recessive inheritance of EIMFS is often described in consanguineous families or families with more than one affected individual.

9.
10.
11.
12.
13.
14.
15.
16.
17.
18.
19.
20.
21.
22.

From: SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.