MCID: LTH036
MIFTS: 15

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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAT1 NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)SNV Pathogenic 434520 rs1554295159 7:2581805-2581805 7:2542171-2542171
2 BRAT1 NC_000007.14:g.(?_2544889)_(2554451_?)deldeletion Pathogenic 472924 7:2544889-2554451
3 BRAT1 NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)deletion Pathogenic 472936 rs749240175 7:2580939-2580940 7:2541305-2541306
4 BRAT1 NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs)indel Pathogenic 540176 rs1554293869 7:2579211-2579232 7:2539577-2539598
5 BRAT1 NM_152743.4(BRAT1):c.171del (p.Glu57fs)deletion Pathogenic 559429 rs1554297097 7:2587069-2587069 7:2547435-2547435
6 BRAT1 NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter)SNV Pathogenic 573854 rs1562596651 7:2593961-2593961 7:2554327-2554327
7 BRAT1 NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)SNV Pathogenic 661637 7:2578899-2578899 7:2539265-2539265
8 BRAT1 NM_152743.4(BRAT1):c.1013dup (p.Gly339fs)duplication Pathogenic 647546 7:2581755-2581756 7:2542121-2542122
9 BRAT1 NC_000007.14:g.(?_2554305)_(2554431_?)deldeletion Pathogenic 651803 7:2593939-2594065 7:2554305-2554431
10 BRAT1 NC_000007.14:g.(?_2554285)_(2554451_?)deldeletion Pathogenic 647953 7:2593919-2594085 7:2554285-2554451
11 BRAT1 NC_000007.14:g.(?_2538049)_(2539371_?)deldeletion Pathogenic 833357 7:2577683-2579005
12 BRAT1 NM_152743.4(BRAT1):c.1492del (p.Leu498fs)deletion Pathogenic 848367 7:2579426-2579426 7:2539792-2539792
13 BRAT1 NM_152743.4(BRAT1):c.398_405del (p.His133fs)deletion Pathogenic 842737 7:2584568-2584575 7:2544934-2544941
14 BRAT1 NM_152743.4(BRAT1):c.638dup (p.Val214fs)duplication Pathogenic 31199 rs730880324 7:2583388-2583389 7:2543754-2543755
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.176T>C (p.Leu59Pro)SNV Pathogenic 180137 rs727505363 7:2587064-2587064 7:2547430-2547430
17 BRAT1 NM_152743.4(BRAT1):c.960_961TC[1] (p.Leu321fs)short repeat Pathogenic 180138 rs727505364 7:2581806-2581807 7:2542172-2542173
18 BRAT1 NM_152743.4(BRAT1):c.1177del (p.Ala393fs)deletion Pathogenic 180139 rs727505365 7:2581076-2581076 7:2541442-2541442
19 BRAT1 NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)SNV Pathogenic 202197 rs794729222 7:2578312-2578312 7:2538678-2538678
20 BRAT1 NM_152743.4(BRAT1):c.294dup (p.Leu99fs)duplication Pathogenic 279703 rs776913277 7:2584678-2584679 7:2545044-2545045
21 BRAT1 NM_152743.4(BRAT1):c.803G>A (p.Arg268His)SNV Pathogenic/Likely pathogenic 429928 rs1131691679 7:2583224-2583224 7:2543590-2543590
22 BRAT1 NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)SNV Likely pathogenic 427101 rs1085307958 7:2584554-2584554 7:2544920-2544920
23 BRAT1 NM_152743.4(BRAT1):c.283-2A>TSNV Likely pathogenic 650471 7:2584692-2584692 7:2545058-2545058
24 BRAT1 NM_152743.4(BRAT1):c.1395+2T>ASNV Likely pathogenic 848333 7:2580611-2580611 7:2540977-2540977
25 BRAT1 NM_152743.4(BRAT1):c.1371_1395+16deldeletion Likely pathogenic 654304 7:2580597-2580637 7:2540963-2541003
26 BRAT1 NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)SNV Conflicting interpretations of pathogenicity 265048 rs886039312 7:2578344-2578344 7:2538710-2538710
27 BRAT1 NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)deletion Conflicting interpretations of pathogenicity 372962 rs763527391 7:2578041-2578044 7:2538407-2538410
28 BRAT1 NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)SNV Conflicting interpretations of pathogenicity 377362 rs145833100 7:2578128-2578128 7:2538494-2538494
29 BRAT1 NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)SNV Conflicting interpretations of pathogenicity 449963 rs200502048 7:2578244-2578244 7:2538610-2538610
30 BRAT1 NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)SNV Conflicting interpretations of pathogenicity 445886 rs61729932 7:2577816-2577816 7:2538182-2538182
31 BRAT1 NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)SNV Conflicting interpretations of pathogenicity 446895 rs61753094 7:2578341-2578341 7:2538707-2538707
32 BRAT1 NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)SNV Conflicting interpretations of pathogenicity 472946 rs147745609 7:2579268-2579268 7:2539634-2539634
33 BRAT1 NM_152743.4(BRAT1):c.434C>T (p.Ala145Val)SNV Conflicting interpretations of pathogenicity 540180 rs140833277 7:2583593-2583593 7:2543959-2543959
34 BRAT1 NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)SNV Uncertain significance 540171 rs773571503 7:2577840-2577840 7:2538206-2538206
35 BRAT1 NM_152743.4(BRAT1):c.1067C>T (p.Ala356Val)SNV Uncertain significance 540150 rs912690370 7:2581419-2581419 7:2541785-2541785
36 BRAT1 NM_152743.4(BRAT1):c.883A>G (p.Met295Val)SNV Uncertain significance 540153 rs151317339 7:2582878-2582878 7:2543244-2543244
37 BRAT1 NM_152743.4(BRAT1):c.2170C>G (p.Leu724Val)SNV Uncertain significance 472962 rs751042897 7:2577999-2577999 7:2538365-2538365
38 BRAT1 NM_152743.4(BRAT1):c.511G>C (p.Val171Leu)SNV Uncertain significance 472970 rs769663853 7:2583516-2583516 7:2543882-2543882
39 BRAT1 NM_152743.4(BRAT1):c.1804G>A (p.Val602Ile)SNV Uncertain significance 540177 rs532881368 7:2578365-2578365 7:2538731-2538731
40 BRAT1 NM_152743.4(BRAT1):c.1472G>C (p.Gly491Ala)SNV Uncertain significance 540167 rs762040027 7:2579446-2579446 7:2539812-2539812
41 BRAT1 NM_152743.4(BRAT1):c.1351G>T (p.Ala451Ser)SNV Uncertain significance 540160 rs138276986 7:2580657-2580657 7:2541023-2541023
42 BRAT1 NM_152743.4(BRAT1):c.1395+5G>ASNV Uncertain significance 540170 rs778208704 7:2580608-2580608 7:2540974-2540974
43 BRAT1 NM_152743.4(BRAT1):c.1384T>C (p.Ser462Pro)SNV Uncertain significance 540157 rs761704986 7:2580624-2580624 7:2540990-2540990
44 BRAT1 NM_152743.4(BRAT1):c.2068G>A (p.Glu690Lys)SNV Uncertain significance 540168 rs745828770 7:2578101-2578101 7:2538467-2538467
45 BRAT1 NM_152743.4(BRAT1):c.1498G>C (p.Glu500Gln)SNV Uncertain significance 540161 rs1554293972 7:2579420-2579420 7:2539786-2539786
46 BRAT1 NM_152743.4(BRAT1):c.871G>A (p.Gly291Ser)SNV Uncertain significance 540156 rs764583480 7:2582890-2582890 7:2543256-2543256
47 BRAT1 NM_152743.4(BRAT1):c.32C>A (p.Ala11Asp)SNV Uncertain significance 540166 rs768798947 7:2594034-2594034 7:2554400-2554400
48 BRAT1 NM_152743.4(BRAT1):c.2377G>A (p.Asp793Asn)SNV Uncertain significance 540149 rs759036645 7:2577792-2577792 7:2538158-2538158
49 BRAT1 NM_152743.4(BRAT1):c.2240C>T (p.Ser747Phe)SNV Uncertain significance 540164 rs923807425 7:2577929-2577929 7:2538295-2538295
50 BRAT1 NM_152743.4(BRAT1):c.2147C>T (p.Ala716Val)SNV Uncertain significance 540163 rs140802292 7:2578022-2578022 7:2538388-2538388

Expression for Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome

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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

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