EIEE85
MCID: EPL251
MIFTS: 14

Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects (EIEE85)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects:

Name: Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects 56 6
Eiee85 56

Classifications:



External Ids:

OMIM 56 301044
OMIM Phenotypic Series 56 PS308350

Summaries for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

OMIM : 56 Early infantile epileptic encephalopathy-85 with or without midline brain defects (EIEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; EIEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (301044)

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects, is also known as eiee85. An important gene associated with Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects is SMC1A (Structural Maintenance Of Chromosomes 1A). Affiliated tissues include brain.

Related Diseases for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Clinical features from OMIM:

301044

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects:

40
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Articles related to Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects:

# Title Authors PMID Year
1
Cohesin complex-associated holoprosencephaly. 56 6
31334757 2019
2
Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. 56 6
28166369 2017
3
De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. 56 6
26752331 2016
4
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A. 6 56
26358754 2015
5
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. 6 56
26386245 2015
6
A case of cohesinopathy with a novel de-novo SMC1A splice site mutation. 56
23863341 2013
7
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
8
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMC1A NM_006306.4(SMC1A):c.1911+1G>TSNV Pathogenic 864840 X:53432424-53432424 X:53405492-53405492
2 SMC1A NM_006306.4(SMC1A):c.2364del (p.Asn788fs)deletion Pathogenic 864843 X:53430554-53430554 X:53403622-53403622
3 SMC1A NM_006306.4(SMC1A):c.2197G>T (p.Glu733Ter)SNV Pathogenic 864844 X:53430825-53430825 X:53403893-53403893
4 SMC1A NM_006306.4(SMC1A):c.2477del (p.Asn826fs)deletion Pathogenic 864845 X:53426596-53426596 X:53399674-53399674
5 SMC1A NM_006306.4(SMC1A):c.3115C>T (p.Gln1039Ter)SNV Pathogenic 864846 X:53410033-53410033 X:53383112-53383112
6 SMC1A NM_006306.4(SMC1A):c.2683C>G (p.Arg895Gly)SNV Pathogenic 864847 X:53423417-53423417 X:53396497-53396497
7 SMC1A NM_006306.4(SMC1A):c.2394del (p.Lys798fs)deletion Pathogenic 864848 X:53430524-53430524 X:53403592-53403592
8 SMC1A NM_006306.4(SMC1A):c.3549_3552dup (p.Ile1185fs)duplication Pathogenic 208627 rs863225459 X:53407606-53407607 X:53380685-53380686
9 SMC1A NM_006306.4(SMC1A):c.2853_2856del (p.Ser951fs)deletion Pathogenic 208626 rs863225458 X:53423153-53423156 X:53396233-53396236

Expression for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 85, with or Without Midline Brain Defects.

Pathways for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

GO Terms for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

Sources for Epileptic Encephalopathy, Early Infantile, 85, with or Without...

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