RMFSL
MCID: RGD002
MIFTS: 39

Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL)

Categories: Genetic diseases

Aliases & Classifications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

MalaCards integrated aliases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

Name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 56 73 29 13 6 71
Rmfsl 56 73
Syndrome, Rigidity and Multifocal Seizure, Lethal Neonatal 39
Muscle Rigidity 43

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at or soon after birth
death often in infancy or in childhood


HPO:

31
rigidity and multifocal seizure syndrome, lethal neonatal:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

UniProtKB/Swiss-Prot : 73 Rigidity and multifocal seizure syndrome, lethal neonatal: A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life.

MalaCards based summary : Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal, also known as rmfsl, is related to malignant hyperthermia and neuroleptic malignant syndrome, and has symptoms including clonus, apnea and myoclonic seizures. An important gene associated with Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal is BRAT1 (BRCA1 Associated ATM Activator 1). The drugs Donepezil and Remifentanil have been mentioned in the context of this disorder. Affiliated tissues include bone, tongue and brain, and related phenotypes are micrognathia and optic atrophy

OMIM : 56 Lethal neonatal rigidity and multifocal seizure syndrome is a severe autosomal recessive epileptic encephalopathy characterized by onset of rigidity and intractable seizures at or soon after birth. Affected infants achieve no developmental milestones and die within the first months or years of life (summary by Saitsu et al., 2014). (614498)

Related Diseases for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 malignant hyperthermia 11.6
2 neuroleptic malignant syndrome 11.4
3 stiff-person syndrome 11.3
4 arthrogryposis, distal, type 2a 11.3
5 central core disease of muscle 11.2
6 malignant hyperthermia 1 11.2
7 multiple system atrophy 1 11.2
8 neurodegeneration with brain iron accumulation 1 11.2
9 epilepsy, pyridoxine-dependent 11.2
10 dystonia, dopa-responsive 11.0
11 malignant hyperthermia 2 11.0
12 malignant hyperthermia 3 11.0
13 spinal muscular atrophy with progressive myoclonic epilepsy 11.0
14 ceroid lipofuscinosis, neuronal, 3 11.0
15 basal ganglia calcification, idiopathic, 1 11.0
16 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.0
17 hyperphosphatasia with mental retardation syndrome 1 11.0
18 epilepsy, myoclonic juvenile 11.0
19 lubs x-linked mental retardation syndrome 11.0
20 neurodegeneration with brain iron accumulation 5 11.0
21 ceroid lipofuscinosis, neuronal, 8 11.0
22 malignant hyperthermia 4 11.0
23 phosphoglycerate dehydrogenase deficiency 11.0
24 malignant hyperthermia 5 11.0
25 malignant hyperthermia 6 11.0
26 lissencephaly 1 11.0
27 salt and pepper developmental regression syndrome 11.0
28 striatal degeneration, autosomal dominant 1 11.0
29 ceroid lipofuscinosis, neuronal, 10 11.0
30 dystonia 16 11.0
31 parkinsonism-dystonia, infantile, 1 11.0
32 asparagine synthetase deficiency 11.0
33 hypermanganesemia with dystonia 11.0
34 neurodegeneration with brain iron accumulation 11.0
35 benign neonatal seizures 11.0
36 childhood absence epilepsy 11.0
37 unverricht-lundborg syndrome 11.0
38 striatonigral degeneration 11.0
39 biotin-thiamine-responsive basal ganglia disease 11.0
40 chd2-related neurodevelopmental disorders 11.0
41 mitochondrial membrane protein-associated neurodegeneration 11.0
42 prickle1-related progressive myoclonus epilepsy with ataxia 11.0
43 pura-related neurodevelopmental disorders 11.0
44 progressive myoclonus epilepsy, lafora type 11.0
45 scn8a-related epilepsy with encephalopathy 11.0
46 stxbp1 encephalopathy with epilepsy 11.0
47 multiminicore disease 11.0
48 visual epilepsy 10.2
49 seizure disorder 10.2
50 malignant hyperthermia susceptibility 10.1

Graphical network of the top 20 diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:



Diseases related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Symptoms & Phenotypes for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Human phenotypes related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 micrognathia 31 occasional (7.5%) HP:0000347
2 optic atrophy 31 occasional (7.5%) HP:0000648
3 delayed myelination 31 occasional (7.5%) HP:0012448
4 clonus 31 HP:0002169
5 global developmental delay 31 HP:0001263
6 inguinal hernia 31 HP:0000023
7 hypertonia 31 HP:0001276
8 flexion contracture 31 HP:0001371
9 generalized myoclonic seizures 31 HP:0002123
10 babinski sign 31 HP:0003487
11 apnea 31 HP:0002104
12 rigidity 31 HP:0002063
13 myoclonic spasms 31 HP:0003739
14 neuronal loss in central nervous system 31 HP:0002529
15 gliosis 31 HP:0002171
16 bradycardia 31 HP:0001662
17 abnormal autonomic nervous system physiology 31 HP:0012332
18 muscular hypotonia of the trunk 31 HP:0008936
19 progressive microcephaly 31 HP:0000253
20 multifocal seizures 31 HP:0031165

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
clonus
dysautonomia
hypertonia
multifocal seizures
more
Head And Neck Face:
micrognathia

Cardiovascular Heart:
bradycardia

Muscle Soft Tissue:
axial hypotonia

Head And Neck Eyes:
optic atrophy (1 family)

Prenatal Manifestations Movement:
episodic myoclonic spasms

Abdomen External Features:
inguinal hernia

Respiratory:
apnea

Skeletal:
joint contractures

Head And Neck Head:
microcephaly, progressive
small head (-1.5 to 2 sd)

Skeletal Skull:
small or absent fontanels
depressed frontal bones
overlapping cranial sutures

Clinical features from OMIM:

614498

UMLS symptoms related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:


clonus, apnea, myoclonic seizures

Drugs & Therapeutics for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Drugs for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 61)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Donepezil Approved Phase 4 120014-06-4 3152
2
Remifentanil Approved Phase 4 132875-61-7 60815
3
Sodium citrate Approved, Investigational Phase 4 68-04-2
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7 Nootropic Agents Phase 4
8 Cholinesterase Inhibitors Phase 4
9 Narcotics Phase 4
10 Anesthetics Phase 4
11 Adjuvants, Anesthesia Phase 4
12 Analgesics, Opioid Phase 4
13 Anesthetics, General Phase 4
14 Central Nervous System Depressants Phase 4
15 Anesthetics, Intravenous Phase 4
16 Analgesics Phase 4
17 Citrate Phase 4
18 Hypnotics and Sedatives Phase 4
19 Anesthetics, Dissociative Phase 4
20 Excitatory Amino Acid Antagonists Phase 4
21 Excitatory Amino Acids Phase 4
22
Carvedilol Approved, Investigational Phase 2 72956-09-3 2585
23
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4, 22737-96-8 445354 9904001
24
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
25 Neurotransmitter Agents Phase 2
26 Vasodilator Agents Phase 2
27 Antihypertensive Agents Phase 2
28 Adrenergic Antagonists Phase 2
29 retinol Phase 2
30 Adrenergic alpha-Antagonists Phase 2
31 Antioxidants Phase 2
32 Adrenergic beta-Antagonists Phase 2
33 Retinol palmitate Phase 2
34 Protective Agents Phase 2
35 Calcium, Dietary Phase 2
36 calcium channel blockers Phase 2
37 Adrenergic Agents Phase 2
38 Hormones Phase 2
39 Olive Phase 2
40 Immunoglobulins Phase 1
41 Antibodies Phase 1
42 Immunoglobulins, Intravenous Phase 1
43 Immunologic Factors Phase 1
44 Rho(D) Immune Globulin Phase 1
45 gamma-Globulins Phase 1
46
Rocuronium Approved 119302-91-9, 143558-00-3 441290
47
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
48
Tramadol Approved, Investigational 27203-92-5 33741
49
Lidocaine Approved, Vet_approved 137-58-6 3676
50
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-blind, Placebo Controlled, Crossover Study to Evaluate the Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4 Donepezil
2 Efficacy and Safety of Opioid Analgesics as a Preventive Treatment of Procedural Pain Associated With Turning Among Critically Ill Patients Under Mechanical Ventilation. A Controlled Clinical Trial Comparing Placebo and Fentanyl Completed NCT01950000 Phase 4 Fentanyl
3 A Prospective, Randomized, Double Blind Study Comparing the Efficacy and Safety of Fentanyl Nasal Spray to Placebo as an Analgesic, in Patients Undergoing Outpatient Cystoscopic Procedures Completed NCT01708122 Phase 4 Fentanyl;saline
4 Remifentanil-based Total Intravenous Anesthesia for Pediatric Rigid Bronchoscopy: Comparison of Propofol and Ketamine As Adjuvant Completed NCT01947114 Phase 4 Propofol;Ketamine;Remifentanil
5 Dose-Escalation Trial of Continuously Infused Recombinant-Methionyl Human Glial Cell Line-Derived Neurotrophic Factor for the Treatment of PSP Completed NCT00005903 Phase 2 GDNF & Synchro Med Infusion System
6 The Effect of Adrenergic Blocker Therapy on Cardiac and Striatal Transporter Uptake in Pre-Motor and Symptomatic Parkinson's Disease Recruiting NCT03775096 Phase 2 Carvedilol
7 A Phase II, Randomized, Open-label, Double-blind, Two-center Study to Evaluate the Tolerability, Safety and Dose-finding of Oil Cannabis Preparation for Pain in Parkinson's Disease Not yet recruiting NCT03639064 Phase 2 Cannabis Oil
8 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for Control and Treatment of Parkinson's Disease. Unknown status NCT00674895 Phase 1
9 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy in Patients With Stiff-Man Syndrome: A Double-Blind, Placebo-Controlled Trial Completed NCT00001550 Phase 1 IVIg
10 Intrinsically Photosensitive Retinal Ganglion Cells in Parkinson's Disease Unknown status NCT01010074
11 the Evaluation of Diagnostic Value of Rigiscan Test (Nocturnal Penile Tumescence and Rigidity, NPTR) in Chinese Males Unknown status NCT02573805
12 Effects of Different Intensities of Passive Static Stretching on Flexibility, Neuromuscular and Functional Performance in Soccer Athletes: A Blinded, Randomized Controlled Trial. Unknown status NCT03150563
13 The Effect of Selective Laser Trabeculoplasty (SLT) on Ocular Rigidity Completed NCT01247831
14 The Effect of Priming Intravenous Rocuronium on Fentanyl-Induced Coughing Completed NCT01532466 Rocuronium
15 Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility Completed NCT03250988
16 Using Telemedicine to Improve Spasticity Diagnosis Rates Completed NCT03211390
17 Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity Completed NCT03209960
18 Observational Study to Assess the Prevalence of Spasticity and the Impact on the Quality of Life in Patients With Multiple Sclerosis in Argentina Completed NCT01080040
19 Evaluation of Hepatic Rigidity by Ultrasonic Impulse Elastography in Liver Transplant Patients (SUPERSONIC) Completed NCT03174327
20 The Dose Effects of Remifentanil Boluses on the Hemodynamic Response to Skull Pin Insertion. Completed NCT01056224 Remifentanil
21 Evaluation of Anticholinergic Load Using the ACB "Anticholinergic Cognitive Burden" Scale in Parkinson's Patients Completed NCT04051125
22 Effectiveness of Positioning on Back Pain After Transcatheter Arterial Chemoembolization Among Patients With Hepatocellular Carcinoma Completed NCT03784469
23 Floral Remedies for Sleep Bruxism Patients: A Randomized Trial for Attenuating Temporal Cephalic Pain Completed NCT03112954 Buccal-relaxant formula;Placebo
24 Phase 1 Study of A Double-Blind Placebo-Controlled Study of the Effect of Beta-Alanine and Whole Body Vibration on Neurologic Motoric Function, Vascular Function, and Quality of Life in Parkinson's Disease Completed NCT02184494
25 Improving Dexterous Skills in Parkinson's Disease: A Randomized Controlled Trial Completed NCT02297893
26 Subthalamic Steering for Therapy Optimization in Parkinson's Disease Recruiting NCT03548506
27 Efficacy of Chest PNF on Pulmonary Function in Patients With Parkinson's Diseases Recruiting NCT03977740
28 The Effect of Erector Spina Plane Block on Pulmonary Functions and Analgesic Consumption in Laparoscopic Sleeve Gastrectomy Surgery Recruiting NCT04039321 ESPB group;Control group
29 Biomarker for Metachromatic Leukodystrophy Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT01536327
30 Intensive Running Exercise Improves Parkinson's Motor and Non-motor Symptoms Recruiting NCT03974529
31 The Efficacy Of Ultrasound-Guided Erector Spinae Plane Block For Postoperative Analgesia Management Following Laparoscopic Sleeve Gastrectomy Surgery: A Prospective, Randomized Study Recruiting NCT03921970
32 A New Smartphone-based Wearable Telerehabilitation System for People With Parkinson's Disease Enrolling by invitation NCT04146454
33 Freeman-Sheldon Syndrome Evaluation and Diagnosis in Clinical Settings (FSS-EDICT) I: a Case-Control, Cross-Sectional Study of Baseline and Stress Physiology Parameters Not yet recruiting NCT01306994
34 Long-term Surveillance of the MedStream Programmable Infusion System for the Intrathecal Infusion of Baclofen in the Treatment of Spasticity Terminated NCT01712087

Search NIH Clinical Center for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Cochrane evidence based reviews: muscle rigidity

Genetic Tests for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Genetic tests related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

# Genetic test Affiliating Genes
1 Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal 29 BRAT1

Anatomical Context for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

MalaCards organs/tissues related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

40
Bone, Tongue, Brain, Liver, Cortex, Cerebellum, Kidney

Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Articles related to Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

(show all 11)
# Title Authors PMID Year
1
BRAT1 mutations present with a spectrum of clinical severity. 61 56 6
27282546 2016
2
Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes. 56 6
26535877 2015
3
Lethal neonatal rigidity and multifocal seizure syndrome--report of another family with a BRAT1 mutation. 56 6
25500575 2015
4
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. 56 6
25319849 2014
5
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. 56 6
23035047 2012
6
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 56 6
22279524 2012
7
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. 56
27282648 2016
8
Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype. 61
31879938 2019
9
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. 61
31868227 2019
10
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature. 61
30346566 2018
11
Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1. 61
28752061 2017

Variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

ClinVar genetic disease variations for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal:

6 (show top 50) (show all 182) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAT1 NM_152743.4(BRAT1):c.453_454insGAGAAGAT (p.Leu152fs)insertion Pathogenic 180136 rs1554296088 7:2583573-2583574 7:2543939-2543940
2 BRAT1 NM_152743.4(BRAT1):c.176T>C (p.Leu59Pro)SNV Pathogenic 180137 rs727505363 7:2587064-2587064 7:2547430-2547430
3 BRAT1 NM_152743.4(BRAT1):c.960_961TC[1] (p.Leu321fs)short repeat Pathogenic 180138 rs727505364 7:2581806-2581807 7:2542172-2542173
4 BRAT1 NM_152743.4(BRAT1):c.1177del (p.Ala393fs)deletion Pathogenic 180139 rs727505365 7:2581076-2581076 7:2541442-2541442
5 BRAT1 NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)SNV Pathogenic 202197 rs794729222 7:2578312-2578312 7:2538678-2538678
6 BRAT1 NM_152743.4(BRAT1):c.638dup (p.Val214fs)duplication Pathogenic 31199 rs730880324 7:2583388-2583389 7:2543754-2543755
7 BRAT1 NM_152743.4(BRAT1):c.294dup (p.Leu99fs)duplication Pathogenic 279703 rs776913277 7:2584678-2584679 7:2545044-2545045
8 BRAT1 NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)SNV Pathogenic 434520 rs1554295159 7:2581805-2581805 7:2542171-2542171
9 BRAT1 NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)deletion Pathogenic 472936 rs749240175 7:2580939-2580940 7:2541305-2541306
10 BRAT1 deletion Pathogenic 472924 7:2544889-2554451
11 BRAT1 NM_152743.4(BRAT1):c.1543_1564delinsTC (p.Glu515fs)indel Pathogenic 540176 rs1554293869 7:2579211-2579232 7:2539577-2539598
12 BRAT1 NM_152743.4(BRAT1):c.105G>A (p.Trp35Ter)SNV Pathogenic 573854 rs1562596651 7:2593961-2593961 7:2554327-2554327
13 BRAT1 NM_152743.4(BRAT1):c.171del (p.Glu57fs)deletion Pathogenic 559429 rs1554297097 7:2587069-2587069 7:2547435-2547435
14 BRAT1 NM_152743.4(BRAT1):c.1013dup (p.Gly339fs)duplication Pathogenic 647546 7:2581755-2581756 7:2542121-2542122
15 BRAT1 NM_152743.4(BRAT1):c.1684C>T (p.Arg562Ter)SNV Pathogenic 661637 7:2578899-2578899 7:2539265-2539265
16 BRAT1 NC_000007.13:g.(?_2593939)_(2594065_?)deldeletion Pathogenic 651803 7:2593939-2594065 7:2554305-2554431
17 BRAT1 NC_000007.13:g.(?_2593919)_(2594085_?)deldeletion Pathogenic 647953 7:2593919-2594085 7:2554285-2554451
18 BRAT1 NM_152743.4(BRAT1):c.803G>A (p.Arg268His)SNV Pathogenic/Likely pathogenic 429928 rs1131691679 7:2583224-2583224 7:2543590-2543590
19 BRAT1 NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)SNV Likely pathogenic 427101 rs1085307958 7:2584554-2584554 7:2544920-2544920
20 BRAT1 NM_152743.4(BRAT1):c.283-2A>TSNV Likely pathogenic 650471 7:2584692-2584692 7:2545058-2545058
21 BRAT1 NM_152743.4(BRAT1):c.1371_1395+16deldeletion Likely pathogenic 654304 7:2580597-2580637 7:2540963-2541003
22 BRAT1 NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)deletion Conflicting interpretations of pathogenicity 372962 rs763527391 7:2578041-2578044 7:2538407-2538410
23 BRAT1 NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)SNV Conflicting interpretations of pathogenicity 265048 rs886039312 7:2578344-2578344 7:2538710-2538710
24 BRAT1 NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)SNV Conflicting interpretations of pathogenicity 446895 rs61753094 7:2578341-2578341 7:2538707-2538707
25 BRAT1 NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)SNV Conflicting interpretations of pathogenicity 449963 rs200502048 7:2578244-2578244 7:2538610-2538610
26 BRAT1 NM_152743.4(BRAT1):c.491C>T (p.Ala164Val)SNV Uncertain significance 451290 rs771600489 7:2583536-2583536 7:2543902-2543902
27 BRAT1 NM_152743.4(BRAT1):c.853C>T (p.Arg285Trp)SNV Uncertain significance 444709 rs1301692811 7:2582908-2582908 7:2543274-2543274
28 BRAT1 NM_152743.4(BRAT1):c.1879G>A (p.Ala627Thr)SNV Uncertain significance 445473 rs750400556 7:2578290-2578290 7:2538656-2538656
29 BRAT1 NM_152743.4(BRAT1):c.1939G>T (p.Asp647Tyr)SNV Uncertain significance 472957 rs751770538 7:2578230-2578230 7:2538596-2538596
30 BRAT1 NM_152743.4(BRAT1):c.1656G>C (p.Gln552His)SNV Uncertain significance 472949 rs376177219 7:2578927-2578927 7:2539293-2539293
31 BRAT1 NM_152743.4(BRAT1):c.1421C>T (p.Thr474Met)SNV Uncertain significance 472941 rs148923187 7:2579497-2579497 7:2539863-2539863
32 BRAT1 NM_152743.4(BRAT1):c.1207G>A (p.Gly403Ser)SNV Uncertain significance 472933 rs779837588 7:2581046-2581046 7:2541412-2541412
33 BRAT1 NM_152743.4(BRAT1):c.604G>A (p.Val202Ile)SNV Uncertain significance 472975 rs140943156 7:2583423-2583423 7:2543789-2543789
34 BRAT1 NM_152743.4(BRAT1):c.526A>G (p.Met176Val)SNV Uncertain significance 472971 rs745837522 7:2583501-2583501 7:2543867-2543867
35 BRAT1 NM_152743.4(BRAT1):c.1727G>C (p.Gly576Ala)SNV Uncertain significance 472955 rs150846882 7:2578856-2578856 7:2539222-2539222
36 BRAT1 NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)SNV Uncertain significance 472947 rs142129866 7:2579181-2579181 7:2539547-2539547
37 BRAT1 NM_152743.4(BRAT1):c.1259C>T (p.Ala420Val)SNV Uncertain significance 472934 rs779635361 7:2580994-2580994 7:2541360-2541360
38 BRAT1 NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)SNV Uncertain significance 472932 rs778690788 7:2581055-2581055 7:2541421-2541421
39 BRAT1 NM_152743.4(BRAT1):c.1046C>T (p.Thr349Met)SNV Uncertain significance 472927 rs112658000 7:2581440-2581440 7:2541806-2541806
40 BRAT1 NM_152743.4(BRAT1):c.587_589AGA[1] (p.Lys197del)short repeat Uncertain significance 472973 rs747567777 7:2583435-2583437 7:2543801-2543803
41 BRAT1 NM_152743.4(BRAT1):c.2368G>A (p.Glu790Lys)SNV Uncertain significance 472965 rs765404910 7:2577801-2577801 7:2538167-2538167
42 BRAT1 NM_152743.4(BRAT1):c.1484C>T (p.Pro495Leu)SNV Uncertain significance 472945 rs577945739 7:2579434-2579434 7:2539800-2539800
43 BRAT1 NM_152743.4(BRAT1):c.1480A>T (p.Ile494Phe)SNV Uncertain significance 472944 rs539902160 7:2579438-2579438 7:2539804-2539804
44 BRAT1 NM_152743.4(BRAT1):c.1432C>G (p.Leu478Val)SNV Uncertain significance 472942 rs772904982 7:2579486-2579486 7:2539852-2539852
45 BRAT1 NM_152743.4(BRAT1):c.1395+5G>ASNV Uncertain significance 540170 rs778208704 7:2580608-2580608 7:2540974-2540974
46 BRAT1 NM_152743.4(BRAT1):c.1384T>C (p.Ser462Pro)SNV Uncertain significance 540157 rs761704986 7:2580624-2580624 7:2540990-2540990
47 BRAT1 NM_152743.4(BRAT1):c.1804G>A (p.Val602Ile)SNV Uncertain significance 540177 rs532881368 7:2578365-2578365 7:2538731-2538731
48 BRAT1 NM_152743.4(BRAT1):c.1472G>C (p.Gly491Ala)SNV Uncertain significance 540167 rs762040027 7:2579446-2579446 7:2539812-2539812
49 BRAT1 NM_152743.4(BRAT1):c.1351G>T (p.Ala451Ser)SNV Uncertain significance 540160 rs138276986 7:2580657-2580657 7:2541023-2541023
50 BRAT1 NM_152743.4(BRAT1):c.1067C>T (p.Ala356Val)SNV Uncertain significance 540150 rs912690370 7:2581419-2581419 7:2541785-2541785

Expression for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Search GEO for disease gene expression data for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal.

Pathways for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

GO Terms for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

Sources for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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