RMFSL
MCID: RGD002
MIFTS: 40

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 liver, and related phenotypes are optic atrophy and micrognathia

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 92)
# 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 basal ganglia calcification, idiopathic, 1 11.2
9 neurodegeneration with brain iron accumulation 1 11.2
10 epilepsy, pyridoxine-dependent 11.2
11 malignant hyperthermia 5 11.2
12 dystonia, dopa-responsive 11.0
13 malignant hyperthermia 2 11.0
14 malignant hyperthermia 3 11.0
15 spinal muscular atrophy with progressive myoclonic epilepsy 11.0
16 ceroid lipofuscinosis, neuronal, 3 11.0
17 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.0
18 hyperphosphatasia with mental retardation syndrome 1 11.0
19 epilepsy, myoclonic juvenile 11.0
20 lubs x-linked mental retardation syndrome 11.0
21 epileptic encephalopathy, early infantile, 2 11.0
22 neurodegeneration with brain iron accumulation 5 11.0
23 ceroid lipofuscinosis, neuronal, 8 11.0
24 malignant hyperthermia 4 11.0
25 phosphoglycerate dehydrogenase deficiency 11.0
26 malignant hyperthermia 6 11.0
27 lissencephaly 1 11.0
28 salt and pepper developmental regression syndrome 11.0
29 striatal degeneration, autosomal dominant 1 11.0
30 ceroid lipofuscinosis, neuronal, 10 11.0
31 dystonia 16 11.0
32 parkinsonism-dystonia, infantile, 1 11.0
33 asparagine synthetase deficiency 11.0
34 hypermanganesemia with dystonia 11.0
35 neurodegeneration with brain iron accumulation 11.0
36 benign neonatal seizures 11.0
37 childhood absence epilepsy 11.0
38 unverricht-lundborg syndrome 11.0
39 striatonigral degeneration 11.0
40 biotin-thiamine-responsive basal ganglia disease 11.0
41 chd2-related neurodevelopmental disorders 11.0
42 mitochondrial membrane protein-associated neurodegeneration 11.0
43 prickle1-related progressive myoclonus epilepsy with ataxia 11.0
44 pura-related neurodevelopmental disorders 11.0
45 progressive myoclonus epilepsy, lafora type 11.0
46 scn8a-related epilepsy with encephalopathy 11.0
47 stac3 disorder 11.0
48 stxbp1 encephalopathy with epilepsy 11.0
49 multiminicore disease 11.0
50 microcephaly 10.2

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

Symptoms via clinical synopsis from OMIM:

56
Abdomen External Features:
inguinal hernia

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

Neurologic Central Nervous System:
hypertonia
hyperreflexia
clonus
dysautonomia
multifocal seizures
more
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 63)
# 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
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
7 Cholinergic Agents Phase 4
8 Cholinesterase Inhibitors Phase 4
9 Anesthetics Phase 4
10 Analgesics Phase 4
11 Narcotics Phase 4
12 Analgesics, Opioid Phase 4
13 Anesthetics, General Phase 4
14 Anesthetics, Intravenous Phase 4
15 Excitatory Amino Acid Antagonists Phase 4
16 Hypnotics and Sedatives Phase 4
17 Anesthetics, Dissociative Phase 4
18 Citrate Phase 4
19
Carvedilol Approved, Investigational Phase 2 72956-09-3 2585
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
21 Neurotransmitter Agents Phase 2
22 Vasodilator Agents Phase 2
23 Adrenergic beta-Antagonists Phase 2
24 Adrenergic alpha-Antagonists Phase 2
25 Antihypertensive Agents Phase 2
26 Antioxidants Phase 2
27 Adrenergic Agents Phase 2
28 Retinol palmitate Phase 2
29 retinol Phase 2
30 Hormones Phase 2
31 Adrenergic Antagonists Phase 2
32 Protective Agents Phase 2
33 Adrenergic alpha-1 Receptor Antagonists Phase 2
34 Calcium, Dietary Phase 2
35 calcium channel blockers Phase 2
36 Olive Phase 2
37
Calcium Nutraceutical Phase 2 7440-70-2 271
38 Antibodies Phase 1
39 Immunoglobulins, Intravenous Phase 1
40 Rho(D) Immune Globulin Phase 1
41 gamma-Globulins Phase 1
42 Immunoglobulins Phase 1
43
Rocuronium Approved 119302-91-9, 143558-00-3 441290
44
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
45
Lidocaine Approved, Vet_approved 137-58-6 3676
46
Tramadol Approved, Investigational 27203-92-5 33741
47
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
48
Ibuprofen Approved 15687-27-1 3672
49
Adenosine Approved, Investigational 58-61-7 60961
50
Baclofen Approved 1134-47-0 2284

Interventional clinical trials:

(show all 37)
# 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 Remifentanil-based Total Intravenous Anesthesia for Pediatric Rigid Bronchoscopy: Comparison of Propofol and Ketamine As Adjuvant Completed NCT01947114 Phase 4 Propofol;Ketamine;Remifentanil
4 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
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 the Evaluation of Diagnostic Value of Rigiscan Test (Nocturnal Penile Tumescence and Rigidity, NPTR) in Chinese Males Unknown status NCT02573805
11 Intrinsically Photosensitive Retinal Ganglion Cells in Parkinson's Disease Unknown status NCT01010074
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 Using Telemedicine to Improve Spasticity Diagnosis Rates Completed NCT03211390
16 Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity Completed NCT03209960
17 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
18 Prevalence of Comorbid Spasticity and Urinary Incontinence in Residents of a Long-Term Care Facility Completed NCT03250988
19 Evaluation of Hepatic Rigidity by Ultrasonic Impulse Elastography in Liver Transplant Patients (SUPERSONIC) Completed NCT03174327
20 The Effect of Erector Spina Plane Block on Pulmonary Functions and Analgesic Consumption in Laparoscopic Sleeve Gastrectomy Surgery Completed NCT04039321 ESPB group;Control group
21 Evaluation of Anticholinergic Load Using the ACB "Anticholinergic Cognitive Burden" Scale in Parkinson's Patients Completed NCT04051125
22 The Dose Effects of Remifentanil Boluses on the Hemodynamic Response to Skull Pin Insertion. Completed NCT01056224 Remifentanil
23 Effectiveness of Positioning on Back Pain After Transcatheter Arterial Chemoembolization Among Patients With Hepatocellular Carcinoma Completed NCT03784469
24 Floral Remedies for Sleep Bruxism Patients: A Randomized Trial for Attenuating Temporal Cephalic Pain Completed NCT03112954 Buccal-relaxant formula;Placebo
25 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
26 Improving Dexterous Skills in Parkinson's Disease: A Randomized Controlled Trial Completed NCT02297893
27 Subthalamic Steering for Therapy Optimization in Parkinson's Disease Recruiting NCT03548506
28 Efficacy of Chest PNF on Pulmonary Function in Patients With Parkinson's Diseases Recruiting NCT03977740
29 Intensive Running Exercise Improves Parkinson's Motor and Non-motor Symptoms Recruiting NCT03974529
30 The Efficacy Of Ultrasound-Guided Erector Spinae Plane Block For Postoperative Analgesia Management Following Laparoscopic Sleeve Gastrectomy Surgery: A Prospective, Randomized Study Recruiting NCT03921970
31 Rostock International Parkinson's Disease Study: an International, Multicenter, Epidemiological Observational Study Recruiting NCT03866603
32 Biomarker for Metachromatic Leukodystrophy Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01536327
33 Comparison of Intravenous Ibuprofen and Erector Spinae Plane Block for Postoperative Pain Management After Laparoscopic Sleeve Gastrectomy. A Randomized Controlled Study Active, not recruiting NCT04232072
34 A New Smartphone-based Wearable Telerehabilitation System for People With Parkinson's Disease Enrolling by invitation NCT04146454
35 Effects of Ischemic Preconditioning on Muscle Damage Induced by Excentric Exercise: Randomized Clinical Trial Placebo Controlled Not yet recruiting NCT04420819
36 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
37 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, Liver, Cortex, Cerebellum, Testes

Publications for Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal

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

(show all 12)
# Title Authors PMID Year
1
BRAT1 mutations present with a spectrum of clinical severity. 56 6 61
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. 6 56
25500575 2015
4
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. 6 56
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. 6 56
22279524 2012
7
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood. 56
27282648 2016
8
A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal. 61
32345087 2020
9
Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype. 61
31879938 2019
10
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. 61
31868227 2019
11
BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature. 61
30346566 2018
12
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 317) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 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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