MCID: LTH036
MIFTS: 16

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 58 17
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
lethal neonatal spasticity-epileptic encephalopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G40.4
Orphanet 58 ORPHA435845

Summaries for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

MalaCards based summary : Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome, is also known as lethal neonatal rigidity-multifocal seizure syndrome. 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

Articles related to Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome:

# Title Authors PMID Year
1
BRAT1 mutations present with a spectrum of clinical severity. 6
27282546 2016
2
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 6
26535877 2015
3
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 6
25500575 2015
4
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. 6
25319849 2014
5
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 6
23035047 2012
6
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6
22279524 2012

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 384)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAT1 NC_000007.14:g.(?_2538049)_(2539371_?)del Deletion Pathogenic 833357 7:2577683-2579005
2 BRAT1 NM_152743.4(BRAT1):c.398_405del (p.His133fs) Deletion Pathogenic 842737 7:2584568-2584575 7:2544934-2544941
3 BRAT1 NM_152743.4(BRAT1):c.1492del (p.Leu498fs) Deletion Pathogenic 848367 7:2579426-2579426 7:2539792-2539792
4 BRAT1 NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro) SNV Pathogenic 180137 rs727505363 7:2587064-2587064 7:2547430-2547430
5 BRAT1 NM_152743.4(BRAT1):c.1177del (p.Ala393fs) Deletion Pathogenic 180139 rs727505365 7:2581076-2581076 7:2541442-2541442
6 BRAT1 NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) Deletion Pathogenic 472936 rs749240175 7:2580939-2580940 7:2541305-2541306
7 BRAT1 NM_152743.4(BRAT1):c.803G>A (p.Arg268His) SNV Pathogenic 429928 rs1131691679 7:2583224-2583224 7:2543590-2543590
8 BRAT1 NM_152743.4(BRAT1):c.171del (p.Glu57fs) Deletion Pathogenic 559429 rs1554297097 7:2587069-2587069 7:2547435-2547435
9 BRAT1 NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter) SNV Pathogenic 661637 rs759216914 7:2578899-2578899 7:2539265-2539265
10 BRAT1 NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter) SNV Pathogenic 944680 7:2579199-2579199 7:2539565-2539565
11 BRAT1 NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter) SNV Pathogenic 573854 rs1562596651 7:2593961-2593961 7:2554327-2554327
12 BRAT1 NM_152743.4(BRAT1):c.960_961TC[1] (p.Leu321fs) Microsatellite Pathogenic 180138 rs727505364 7:2581806-2581807 7:2542172-2542173
13 BRAT1 NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs) Indel Pathogenic 540176 rs1554293869 7:2579211-2579232 7:2539577-2539598
14 BRAT1 NM_152743.4(BRAT1):c.1013dup (p.Gly339fs) Duplication Pathogenic 647546 rs754341393 7:2581755-2581756 7:2542121-2542122
15 BRAT1 NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs) Insertion Pathogenic 180136 rs1554296088 7:2583573-2583574 7:2543939-2543940
16 BRAT1 NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter) SNV Pathogenic 202197 rs794729222 7:2578312-2578312 7:2538678-2538678
17 BRAT1 NM_152743.4(BRAT1):c.1499-1G>T SNV Pathogenic 872930
18 BRAT1 NC_000007.14:g.(?_2544889)_(2554451_?)del Deletion Pathogenic 472924 7:2544889-2554451
19 BRAT1 NC_000007.14:g.(?_2554285)_(2554451_?)del Deletion Pathogenic 647953 7:2593919-2594085 7:2554285-2554451
20 BRAT1 NC_000007.14:g.(?_2554305)_(2554431_?)del Deletion Pathogenic 651803 7:2593939-2594065 7:2554305-2554431
21 BRAT1 NM_152743.4(BRAT1):c.638dup (p.Val214fs) Duplication Pathogenic 31199 rs730880324 7:2583388-2583389 7:2543754-2543755
22 BRAT1 NM_152743.4(BRAT1):c.294dup (p.Leu99fs) Duplication Pathogenic 279703 rs776913277 7:2584678-2584679 7:2545044-2545045
23 BRAT1 NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) SNV Pathogenic 427101 rs1085307958 7:2584554-2584554 7:2544920-2544920
24 BRAT1 NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter) SNV Pathogenic 434520 rs1554295159 7:2581805-2581805 7:2542171-2542171
25 BRAT1 NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs) Deletion Likely pathogenic 372962 rs763527391 7:2578041-2578044 7:2538407-2538410
26 BRAT1 NM_152743.4(BRAT1):c.1710del (p.Gln571fs) Deletion Likely pathogenic 817329 rs756489141 7:2578873-2578873 7:2539239-2539239
27 BRAT1 NM_152743.4(BRAT1):c.1371_1395+16del Deletion Likely pathogenic 654304 rs1224820591 7:2580597-2580637 7:2540963-2541003
28 BRAT1 NM_152743.4(BRAT1):c.283-2A>T SNV Likely pathogenic 650471 rs147005619 7:2584692-2584692 7:2545058-2545058
29 BRAT1 NM_152743.4(BRAT1):c.1395+2T>A SNV Likely pathogenic 848333 7:2580611-2580611 7:2540977-2540977
30 BRAT1 NC_000007.14:g.(?_2544889)_(2554451_?)dup Duplication Uncertain significance 830572 7:2584523-2594085
31 BRAT1 NC_000007.14:g.(?_2538049)_(2554451_?)dup Duplication Uncertain significance 830768 7:2577683-2594085
32 BRAT1 NM_152743.4(BRAT1):c.2323A>G (p.Met775Val) SNV Uncertain significance 842958 7:2577846-2577846 7:2538212-2538212
33 BRAT1 NM_152743.4(BRAT1):c.2051C>G (p.Pro684Arg) SNV Uncertain significance 845356 7:2578118-2578118 7:2538484-2538484
34 BRAT1 NM_152743.4(BRAT1):c.1688C>T (p.Ala563Val) SNV Uncertain significance 845683 7:2578895-2578895 7:2539261-2539261
35 BRAT1 NM_152743.4(BRAT1):c.2089C>T (p.His697Tyr) SNV Uncertain significance 846767 7:2578080-2578080 7:2538446-2538446
36 BRAT1 NM_152743.4(BRAT1):c.987G>A (p.Lys329=) SNV Uncertain significance 835385 7:2581782-2581782 7:2542148-2542148
37 BRAT1 NM_152743.4(BRAT1):c.577G>A (p.Ala193Thr) SNV Uncertain significance 836285 7:2583450-2583450 7:2543816-2543816
38 BRAT1 NM_152743.4(BRAT1):c.224_226del (p.Phe75del) Deletion Uncertain significance 837200 7:2587014-2587016 7:2547380-2547382
39 BRAT1 NM_152743.4(BRAT1):c.1395G>T (p.Thr465=) SNV Uncertain significance 838177 7:2580613-2580613 7:2540979-2540979
40 BRAT1 NM_152743.4(BRAT1):c.1405A>G (p.Lys469Glu) SNV Uncertain significance 838923 7:2579513-2579513 7:2539879-2539879
41 BRAT1 NM_152743.4(BRAT1):c.1795A>G (p.Ile599Val) SNV Uncertain significance 839149 7:2578374-2578374 7:2538740-2538740
42 BRAT1 NM_152743.4(BRAT1):c.1833G>A (p.Ala611=) SNV Uncertain significance 839831 7:2578336-2578336 7:2538702-2538702
43 BRAT1 NM_152743.4(BRAT1):c.1564G>A (p.Glu522Lys) SNV Uncertain significance 840355 7:2579211-2579211 7:2539577-2539577
44 BRAT1 NM_152743.4(BRAT1):c.1498+6G>A SNV Uncertain significance 848791 7:2579414-2579414 7:2539780-2539780
45 BRAT1 NM_152743.4(BRAT1):c.560C>T (p.Pro187Leu) SNV Uncertain significance 848825 7:2583467-2583467 7:2543833-2543833
46 BRAT1 NM_152743.4(BRAT1):c.104G>T (p.Trp35Leu) SNV Uncertain significance 849191 7:2593962-2593962 7:2554328-2554328
47 BRAT1 NM_152743.4(BRAT1):c.1394C>T (p.Thr465Met) SNV Uncertain significance 849865 7:2580614-2580614 7:2540980-2540980
48 BRAT1 NM_152743.4(BRAT1):c.489G>A (p.Ala163=) SNV Uncertain significance 850486 7:2583538-2583538 7:2543904-2543904
49 BRAT1 NM_152743.4(BRAT1):c.1313A>T (p.Gln438Leu) SNV Uncertain significance 850523 7:2580940-2580940 7:2541306-2541306
50 BRAT1 NM_152743.4(BRAT1):c.1487A>G (p.Gln496Arg) SNV Uncertain significance 851385 7:2579431-2579431 7:2539797-2539797

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
19 FMA
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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71 UMLS
72 UMLS via Orphanet
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