MCID: LTH036
MIFTS: 6

Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

MalaCards integrated aliases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome:

Name: Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome 60 17
Syndrome, Rigidity and Multifocal Seizure, Lethal Neonatal 41
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 G40.4
Orphanet 60 ORPHA435845

Summaries for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

MalaCards based summary : Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome, is also known as syndrome, rigidity and multifocal seizure, lethal neonatal. An important gene associated with Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome is BRAT1 (BRCA1 Associated ATM Activator 1).

Related Diseases for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Symptoms & Phenotypes for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Drugs & Therapeutics for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Search Clinical Trials , NIH Clinical Center for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Genetic Tests for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Anatomical Context for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Publications for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

ClinVar genetic disease variations for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome:

6 (show top 50) (show all 363)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRAT1 NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs) insertion Pathogenic rs1554296088 GRCh38 Chromosome 7, 2543939: 2543940
2 BRAT1 NM_152743.3(BRAT1): c.453_454insGAGAAGAT (p.Leu152Glufs) insertion Pathogenic rs1554296088 GRCh37 Chromosome 7, 2583573: 2583574
3 BRAT1 NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro) single nucleotide variant Pathogenic rs727505363 GRCh37 Chromosome 7, 2587064: 2587064
4 BRAT1 NM_152743.3(BRAT1): c.176T> C (p.Leu59Pro) single nucleotide variant Pathogenic rs727505363 GRCh38 Chromosome 7, 2547430: 2547430
5 BRAT1 NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs) deletion Pathogenic rs727505364 GRCh37 Chromosome 7, 2581806: 2581807
6 BRAT1 NM_152743.3(BRAT1): c.962_963delTC (p.Leu321Profs) deletion Pathogenic rs727505364 GRCh38 Chromosome 7, 2542172: 2542173
7 BRAT1 NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs) deletion Pathogenic rs727505365 GRCh37 Chromosome 7, 2581076: 2581076
8 BRAT1 NM_152743.3(BRAT1): c.1177delG (p.Ala393Leufs) deletion Pathogenic rs727505365 GRCh38 Chromosome 7, 2541442: 2541442
9 BRAT1 NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter) single nucleotide variant Pathogenic rs794729222 GRCh37 Chromosome 7, 2578312: 2578312
10 BRAT1 NM_152743.3(BRAT1): c.1857G> A (p.Trp619Ter) single nucleotide variant Pathogenic rs794729222 GRCh38 Chromosome 7, 2538678: 2538678
11 BRAT1 NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs) duplication Pathogenic rs730880324 GRCh37 Chromosome 7, 2583389: 2583389
12 BRAT1 NM_152743.3(BRAT1): c.638dupA (p.Val214Glyfs) duplication Pathogenic rs730880324 GRCh38 Chromosome 7, 2543755: 2543755
13 BRAT1 NM_152743.3(BRAT1): c.866G> C (p.Cys289Ser) single nucleotide variant Benign/Likely benign rs140451075 GRCh37 Chromosome 7, 2582895: 2582895
14 BRAT1 NM_152743.3(BRAT1): c.866G> C (p.Cys289Ser) single nucleotide variant Benign/Likely benign rs140451075 GRCh38 Chromosome 7, 2543261: 2543261
15 BRAT1 NM_152743.3(BRAT1): c.1825C> T (p.Arg609Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039312 GRCh37 Chromosome 7, 2578344: 2578344
16 BRAT1 NM_152743.3(BRAT1): c.1825C> T (p.Arg609Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039312 GRCh38 Chromosome 7, 2538710: 2538710
17 BRAT1 NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs) duplication Pathogenic rs776913277 GRCh37 Chromosome 7, 2584679: 2584679
18 BRAT1 NM_152743.3(BRAT1): c.294dupA (p.Leu99Thrfs) duplication Pathogenic rs776913277 GRCh38 Chromosome 7, 2545045: 2545045
19 BRAT1 NM_152743.3(BRAT1): c.2125_2128delTTTG (p.Phe709Thrfs) deletion Conflicting interpretations of pathogenicity rs763527391 GRCh37 Chromosome 7, 2578041: 2578044
20 BRAT1 NM_152743.3(BRAT1): c.2125_2128delTTTG (p.Phe709Thrfs) deletion Conflicting interpretations of pathogenicity rs763527391 GRCh38 Chromosome 7, 2538407: 2538410
21 BRAT1 NM_152743.3(BRAT1): c.962T> G (p.Leu321Arg) single nucleotide variant Benign/Likely benign rs150942467 GRCh38 Chromosome 7, 2542173: 2542173
22 BRAT1 NM_152743.3(BRAT1): c.962T> G (p.Leu321Arg) single nucleotide variant Benign/Likely benign rs150942467 GRCh37 Chromosome 7, 2581807: 2581807
23 BRAT1 NM_152743.3(BRAT1): c.2041G> A (p.Glu681Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145833100 GRCh37 Chromosome 7, 2578128: 2578128
24 BRAT1 NM_152743.3(BRAT1): c.2041G> A (p.Glu681Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs145833100 GRCh38 Chromosome 7, 2538494: 2538494
25 BRAT1 NM_152743.3(BRAT1): c.419T> C (p.Leu140Pro) single nucleotide variant Likely pathogenic rs1085307958 GRCh38 Chromosome 7, 2544920: 2544920
26 BRAT1 NM_152743.3(BRAT1): c.419T> C (p.Leu140Pro) single nucleotide variant Likely pathogenic rs1085307958 GRCh37 Chromosome 7, 2584554: 2584554
27 BRAT1 NM_152743.3(BRAT1): c.803G> A (p.Arg268His) single nucleotide variant Pathogenic/Likely pathogenic rs1131691679 GRCh37 Chromosome 7, 2583224: 2583224
28 BRAT1 NM_152743.3(BRAT1): c.803G> A (p.Arg268His) single nucleotide variant Pathogenic/Likely pathogenic rs1131691679 GRCh38 Chromosome 7, 2543590: 2543590
29 BRAT1 NM_152743.3(BRAT1): c.1884C> T (p.Ala628=) single nucleotide variant Benign rs142346283 GRCh37 Chromosome 7, 2578285: 2578285
30 BRAT1 NM_152743.3(BRAT1): c.1884C> T (p.Ala628=) single nucleotide variant Benign rs142346283 GRCh38 Chromosome 7, 2538651: 2538651
31 BRAT1 NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs1554295159 GRCh37 Chromosome 7, 2581805: 2581805
32 BRAT1 NM_152743.3(BRAT1): c.964C> T (p.Gln322Ter) single nucleotide variant Pathogenic rs1554295159 GRCh38 Chromosome 7, 2542171: 2542171
33 BRAT1 NM_152743.3(BRAT1): c.675C> T (p.Phe225=) single nucleotide variant Benign rs139443843 GRCh37 Chromosome 7, 2583352: 2583352
34 BRAT1 NM_152743.3(BRAT1): c.675C> T (p.Phe225=) single nucleotide variant Benign rs139443843 GRCh38 Chromosome 7, 2543718: 2543718
35 BRAT1 NM_152743.3(BRAT1): c.1879G> A (p.Ala627Thr) single nucleotide variant Uncertain significance rs750400556 GRCh37 Chromosome 7, 2578290: 2578290
36 BRAT1 NM_152743.3(BRAT1): c.1879G> A (p.Ala627Thr) single nucleotide variant Uncertain significance rs750400556 GRCh38 Chromosome 7, 2538656: 2538656
37 BRAT1 NM_152743.3(BRAT1): c.1867G> A (p.Gly623Ser) single nucleotide variant Benign/Likely benign rs77015302 GRCh37 Chromosome 7, 2578302: 2578302
38 BRAT1 NM_152743.3(BRAT1): c.1867G> A (p.Gly623Ser) single nucleotide variant Benign/Likely benign rs77015302 GRCh38 Chromosome 7, 2538668: 2538668
39 BRAT1 NM_152743.3(BRAT1): c.1135-8C> A single nucleotide variant Benign/Likely benign rs113613637 GRCh37 Chromosome 7, 2581126: 2581126
40 BRAT1 NM_152743.3(BRAT1): c.1135-8C> A single nucleotide variant Benign/Likely benign rs113613637 GRCh38 Chromosome 7, 2541492: 2541492
41 BRAT1 NM_152743.3(BRAT1): c.2353C> T (p.Arg785Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61729932 GRCh37 Chromosome 7, 2577816: 2577816
42 BRAT1 NM_152743.3(BRAT1): c.2353C> T (p.Arg785Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs61729932 GRCh38 Chromosome 7, 2538182: 2538182
43 BRAT1 NM_152743.3(BRAT1): c.2209C> T (p.Arg737Trp) single nucleotide variant Benign rs60152725 GRCh38 Chromosome 7, 2538326: 2538326
44 BRAT1 NM_152743.3(BRAT1): c.2209C> T (p.Arg737Trp) single nucleotide variant Benign rs60152725 GRCh37 Chromosome 7, 2577960: 2577960
45 BRAT1 NM_152743.3(BRAT1): c.1931_1932delGAinsAG (p.Arg644Gln) indel Benign rs71531463 GRCh38 Chromosome 7, 2538603: 2538604
46 BRAT1 NM_152743.3(BRAT1): c.1931_1932delGAinsAG (p.Arg644Gln) indel Benign rs71531463 GRCh37 Chromosome 7, 2578237: 2578238
47 BRAT1 NM_152743.3(BRAT1): c.1828C> T (p.Arg610Trp) single nucleotide variant Uncertain significance rs61753094 GRCh38 Chromosome 7, 2538707: 2538707
48 BRAT1 NM_152743.3(BRAT1): c.1828C> T (p.Arg610Trp) single nucleotide variant Uncertain significance rs61753094 GRCh37 Chromosome 7, 2578341: 2578341
49 BRAT1 NM_152743.3(BRAT1): c.1206C> T (p.Asp402=) single nucleotide variant Benign rs7807895 GRCh38 Chromosome 7, 2541413: 2541413
50 BRAT1 NM_152743.3(BRAT1): c.1206C> T (p.Asp402=) single nucleotide variant Benign rs7807895 GRCh37 Chromosome 7, 2581047: 2581047

Expression for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Search GEO for disease gene expression data for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome.

Pathways for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

GO Terms for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

Sources for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....