FESD
MCID: EPL118
MIFTS: 67

Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation (FESD)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

MalaCards integrated aliases for Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

Name: Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 57 72 29 6 70
Continuous Spike and Waves During Slow-Wave Sleep Syndrome 72 6 70
Landau-Kleffner Syndrome 58 72 70
Aphasia 44 70
Fesd 57 72
Csws 58 72
Lks 58 72
Autosomal Dominant Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia 72
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 70
Epileptic Encephalopathy with Continuous Spike-and-Wave During Slow Sleep 58
Epilepsy, Focal, with Speech Disorder with or Without Mental Retardation 39
Benign Epilepsy of Childhood with Centrotemporal Spikes 72
Continuous Spikes and Waves During Slow-Wave Sleep 58
Continuous Spikes and Waves During Sleep 58
Aphasia, Acquired, with Epilepsy 57
Acquired Aphasia with Epilepsy 72
Acquired Epileptic Aphasia 58
Benign Rolandic Epilepsy 70
Cswss Syndrome 58
Adresd 72
Resdad 72
Bects 72
Cswss 72

Characteristics:

Orphanet epidemiological data:

58
continuous spikes and waves during sleep
Inheritance: Autosomal dominant,Not applicable; Age of onset: Childhood; Age of death: any age;
landau-kleffner syndrome
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
highly variable severity
onset of seizures in infancy or early childhood
seizures may remit in adolescence

Inheritance:
autosomal dominant


HPO:

31
epilepsy, focal, with speech disorder and with or without mental retardation:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 245570
MESH via Orphanet 45 D018887
ICD10 via Orphanet 33 F80.3
UMLS via Orphanet 71 C0282512
UMLS 70 C0003537 C0282512 C1832814 more

Summaries for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

OMIM® : 57 Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013). The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see 117100). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011). (245570) (Updated 20-May-2021)

MalaCards based summary : Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation, also known as continuous spike and waves during slow-wave sleep syndrome, is related to benign epilepsy with centrotemporal spikes and amnestic disorder, and has symptoms including seizures, tremor and fever. An important gene associated with Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A), and among its related pathways/superpathways are Amphetamine addiction and Long-term potentiation. The drugs Topiramate and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and cortex, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 72 Epilepsy, focal, with speech disorder and with or without mental retardation: A highly variable neurologic disorder with features ranging from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, mental retardation and speech dyspraxia, and benign epilepsy with centrotemporal spikes.

Related Diseases for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Diseases related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 473)
# Related Disease Score Top Affiliating Genes
1 benign epilepsy with centrotemporal spikes 31.4 SPTAN1 NEXMIF GRIN2B GRIN2A
2 amnestic disorder 30.6 GRIN2B GRIN2A
3 focal epilepsy 30.3 SPTAN1 GRIN2B GRIN2A
4 epilepsy 30.2 SPTAN1 NEXMIF GRIN2B GRIN2A
5 speech disorder 30.0 SPTAN1 ITSN2 GRIN2B GRIN2A
6 west syndrome 30.0 SPTAN1 GRIN2B GRIN2A
7 landau-kleffner syndrome 29.9 GRIN2B GRIN2A
8 prion disease 29.8 GRIN2B GRIN2A
9 lennox-gastaut syndrome 29.8 GRIN2B GRIN2A
10 seizure disorder 29.7 SPTAN1 GRIN2B GRIN2A FRRS1L
11 vascular dementia 29.6 GRIN2B GRIN2A
12 choreatic disease 29.6 GRIN2B FRRS1L
13 ocular dominance 29.6 GRIN2B GRIN2A
14 pervasive developmental disorder 29.1 GRIN2B GRIN2A
15 centralopathic epilepsy 12.0
16 aphasia 11.9
17 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.8
18 epilepsy-aphasia spectrum 11.7
19 nominal aphasia 11.6
20 logopenic progressive aphasia 11.6
21 progressive non-fluent aphasia 11.5
22 masa syndrome 11.5
23 semantic dementia 11.4
24 continuous spike-wave during slow sleep syndrome 11.3
25 frontotemporal dementia 11.2
26 gerstmann syndrome 11.2
27 pick disease of brain 11.2
28 apraxia 11.1
29 cerebral atrophy 11.0
30 agraphia 11.0
31 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 11.0
32 intellectual developmental disorder with short stature and behavioral abnormalities 11.0
33 autosomal dominant partial epilepsy with auditory features 11.0
34 supranuclear palsy, progressive, 1 11.0
35 inappropriate adh syndrome 10.9
36 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 10.9
37 chromosome xp11.23-p11.22 duplication syndrome 10.9
38 kcnb1 encephalopathy 10.9
39 intellectual disability-expressive aphasia-facial dysmorphism syndrome 10.9
40 moyamoya disease 1 10.9
41 grn-related frontotemporal lobar degeneration 10.9
42 progressive multifocal leukoencephalopathy 10.8
43 handl syndrome 10.8
44 marchiafava bignami disease 10.8
45 stroke, ischemic 10.8
46 sudanophilic cerebral sclerosis 10.8
47 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 10.8
48 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.8
49 spastic paraplegia 16 10.8
50 x-linked charcot-marie-tooth disease 10.8

Comorbidity relations with Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation via Phenotypic Disease Network (PDN): (show all 36)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Benign Essential Hypertension
Brain Cancer Brain Edema
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Decubitus Ulcer
Deficiency Anemia Encephalopathy
Expressive Language Disorder Facial Paralysis
Familial Atrial Fibrillation Generalized Atherosclerosis
Heart Disease Hypertension, Essential
Hypertensive Encephalopathy Hypothyroidism
Intracranial Embolism Intracranial Thrombosis
Malignant Essential Hypertension Mitral Valve Disease
Neurogenic Bladder Obstructive Hydrocephalus
Ocular Motor Apraxia Peripheral Vascular Disease
Protein-Energy Malnutrition Pseudobulbar Palsy
Schizophreniform Disorder Sinoatrial Node Disease
Spastic Hemiplegia Status Epilepticus
Swallowing Disorders Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:



Diseases related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation

Symptoms & Phenotypes for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Human phenotypes related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

58 31 (show top 50) (show all 67)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
2 global developmental delay 31 occasional (7.5%) HP:0001263
3 behavioral abnormality 58 31 Frequent (79-30%) HP:0000708
4 attention deficit hyperactivity disorder 58 31 Frequent (79-30%) HP:0007018
5 aphasia 58 31 Occasional (29-5%),Very frequent (99-80%) HP:0002381
6 speech apraxia 58 31 Occasional (29-5%),Very frequent (99-80%) HP:0011098
7 eeg with centrotemporal focal spike waves 58 31 Frequent (79-30%) HP:0012557
8 seizures 58 Very frequent (99-80%),Very frequent (99-80%)
9 sleep disturbance 58 Occasional (29-5%)
10 emotional lability 58 Occasional (29-5%)
11 depressivity 58 Occasional (29-5%)
12 dysphasia 31 HP:0002357
13 developmental regression 58 Frequent (79-30%),Frequent (79-30%)
14 delayed speech and language development 31 HP:0000750
15 cognitive impairment 58 Frequent (79-30%)
16 slurred speech 58 Occasional (29-5%)
17 motor deterioration 58 Occasional (29-5%)
18 anxiety 58 Occasional (29-5%)
19 dystonia 58 Occasional (29-5%)
20 memory impairment 58 Occasional (29-5%)
21 gait ataxia 58 Occasional (29-5%)
22 steppage gait 58 Occasional (29-5%)
23 generalized tonic-clonic seizures 58 Frequent (79-30%),Occasional (29-5%)
24 clumsiness 58 Occasional (29-5%)
25 focal impaired awareness seizure 58 Frequent (79-30%),Occasional (29-5%)
26 autistic behavior 58 Occasional (29-5%),Frequent (79-30%)
27 aggressive behavior 58 Occasional (29-5%),Occasional (29-5%)
28 hyperactivity 58 Occasional (29-5%)
29 generalized tonic-clonic seizures without focal onset 58 Frequent (79-30%)
30 focal-onset seizure 58 Frequent (79-30%)
31 frequent falls 58 Occasional (29-5%)
32 impulsivity 58 Occasional (29-5%)
33 short attention span 58 Occasional (29-5%)
34 loss of speech 58 Very frequent (99-80%)
35 agnosia 31 HP:0010524
36 mutism 58 Occasional (29-5%)
37 absence seizure 58 Frequent (79-30%)
38 focal motor seizure 58 Frequent (79-30%),Frequent (79-30%)
39 epileptic encephalopathy 58 Very rare (<4-1%)
40 language impairment 58 Very frequent (99-80%)
41 autoimmune antibody positivity 58 Very rare (<4-1%)
42 hyperkinetic movements 58 Occasional (29-5%)
43 difficulty standing 58 Occasional (29-5%)
44 spoken word recognition deficit 58 Very frequent (99-80%)
45 atonic seizure 58 Occasional (29-5%)
46 focal myoclonic seizures 58 Occasional (29-5%)
47 speech articulation difficulties 58 Occasional (29-5%),Frequent (79-30%)
48 atypical absence seizure 58 Frequent (79-30%),Occasional (29-5%)
49 eeg with generalized epileptiform discharges 58 Frequent (79-30%)
50 social and occupational deterioration 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysphasia
mental retardation (in some patients)
learning difficulties
speech and language difficulties
delayed cognitive development (in some patients)
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features
attention deficit

Clinical features from OMIM®:

245570 (Updated 20-May-2021)

UMLS symptoms related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:


seizures; tremor; fever; back pain; dyspnea; vertigo; cachexia; headache; syncope; scanning speech; cyanosis; edema; pain; chronic pain; sciatica; sore throat; icterus; signs and symptoms; signs and symptoms, digestive; other symbolic dysfunction; hot flushes; vertigo/dizziness; sleeplessness; other symptoms involving head and neck; swelling, mass, or lump in head and neck; aprosodia; aphasic; symptoms involving head and neck; other and unspecified speech disturbances; other speech disturbances; central nervous system signs and symptoms

GenomeRNAi Phenotypes related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell size GR00098-A-4 8.62 ITSN2 SPTAN1

Drugs & Therapeutics for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Drugs for Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 147)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4 97240-79-4 5284627
2
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
3
Levodopa Approved Phase 4 59-92-7 6047
4
Memantine Approved, Investigational Phase 4 19982-08-2 4054
5
Citalopram Approved Phase 4 59729-33-8 2771
6
Donepezil Approved Phase 4 120014-06-4 3152
7
Dexetimide Withdrawn Phase 4 21888-98-2
8
Corticosterone Experimental Phase 4 50-22-6 5753
9 Psychotropic Drugs Phase 4
10 Serotonin Uptake Inhibitors Phase 4
11 Antidepressive Agents Phase 4
12 Cholinergic Agents Phase 4
13 Nootropic Agents Phase 4
14 Cholinesterase Inhibitors Phase 4
15 Excitatory Amino Acid Antagonists Phase 4
16 Anti-Inflammatory Agents Phase 4
17 Fluorodeoxyglucose F18 Phase 4
18
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
19
Carbidopa Approved Phase 2, Phase 3 28860-95-9 34359
20
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
21
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
22
tannic acid Approved Phase 3 1401-55-4
23
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
24
Miglustat Approved Phase 3 72599-27-0 51634
25
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
26
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 439-14-5 3016
27 Aromatic Amino Acid Decarboxylase Inhibitors Phase 2, Phase 3
28 Carbidopa, levodopa drug combination Phase 2, Phase 3
29 Anti-Retroviral Agents Phase 3
30 Anti-HIV Agents Phase 3
31 Cardiac Glycosides Phase 3
32 Glycoside Hydrolase Inhibitors Phase 3
33 Hypnotics and Sedatives Phase 2, Phase 3
34 Gastrointestinal Agents Phase 2, Phase 3
35 Anesthetics, General Phase 2, Phase 3
36 Anesthetics Phase 2, Phase 3
37 Antiemetics Phase 2, Phase 3
38 Anesthetics, Intravenous Phase 2, Phase 3
39 GABA Modulators Phase 2, Phase 3
40 diuretics Phase 2, Phase 3
41 Anti-Anxiety Agents Phase 2, Phase 3
42 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
43
Galantamine Approved Phase 2 357-70-0 9651
44
Dextroamphetamine Approved, Illicit Phase 2 51-64-9 5826
45
Tolcapone Approved, Withdrawn Phase 2 134308-13-7 4659569
46
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
47
Vorinostat Approved, Investigational Phase 1, Phase 2 149647-78-9 5311
48
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
49
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
50
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755

Interventional clinical trials:

(show top 50) (show all 377)
# Name Status NCT ID Phase Drugs
1 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Unknown status NCT00196703 Phase 4 memantine
2 A Randomized, Open Label, Comparative, Multi-center Clinical Trial to Determine the Efficacy and Safety of Topiramate Comparing With Carbamazepine in Benign Rolandic Epilepsy. Completed NCT00216567 Phase 4 topamax
3 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Completed NCT00640198 Phase 4 memantine;memantine;placebo
4 Treatment With Donepezil of Chronic Aphasia and Sensorimotor Deficits Associated to Cerebrovascular Accidents: a Double-Blind,Placebo-Controlled, Randomized Parallel Trial. Completed NCT00196690 Phase 4 Donepezil
5 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Aphasia) Completed NCT00102869 Phase 4 levodopa
6 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
7 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
8 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
9 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
10 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
11 Improvement of Aphasia After Stroke by Intensive Training and Transcranial Direct Current Stimulation Unknown status NCT00822068 Phase 2, Phase 3
12 Effects of Repetitive Magnetic Transcranial Stimulation of Low Frequency on Speech Production in Patients With Non-fluent Aphasia Post-ischemic Stroke Unknown status NCT02241213 Phase 3
13 Behavioral and Neural Correlates of Melodic-Intonation-Therapy (MIT) and Speech-Repetition-Therapy (SRT) for Patients With Non-fluent Aphasia Completed NCT00903266 Phase 3
14 Augmenting Language Therapy for Aphasia: A Randomized Double-Blind Placebo-Controlled Trial of Levodopa in Combination With Speech-Language Therapy Completed NCT01429077 Phase 2, Phase 3 levodopa/carbidopa;Placebo comparator
15 Effects of Combining Donepezil, Intensive Language Rehabilitation and Transcranial Direct Current Stimulation on Language Recovery and Brain Reorganization in Chronic Post-stroke Aphasia Completed NCT04134416 Phase 3 Donepezil
16 Effects of Intraoperative Local Steroid Utilization in a Single-Level Minimally Invasive Transforaminal Lumbar Interbody Fusion Completed NCT03308084 Phase 3 Methylprednisolone;Dexamethasone
17 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
18 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
19 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
20 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
21 A Phase 3, Multicenter, Randomized, Double Blind, Placebo Controlled Study to Evaluate the Efficacy and Safety of AL001 in Individuals at Risk for or With Frontotemporal Dementia Due to Heterozygous Mutations in the Progranulin Gene Recruiting NCT04374136 Phase 3 AL001;Placebo
22 Multicenter Study of Non-invasive Repetitive Paraorbital Alternating Current Stimulation of the Brain: Therapy for Aphasy Terminated NCT01277575 Phase 3
23 Non-inferiority Prospective Randomized Trial of Acetazolamide Versus Diazepam in Patients With Continuous Spike and Wave in Sleep (CSWS)/Landau Kleffner Syndrome (LKS) Terminated NCT02904265 Phase 2, Phase 3 Diazepam;Acetazolamide
24 An Open-Label, Extension Study of the Effects of LMTM in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 LMTM
25 Chronic Aphasia - Improved by Intensive Training and Electrical Brain Stimulation (CATS) Unknown status NCT01924702 Phase 2
26 Chronic Aphasia - Improved by Intensive Training and Electrical Brain Unknown status NCT01221779 Phase 2
27 Targeted Transcranial Electrotherapy for Stroke Rehabilitation - Exploratory Trial on Aphasia Unknown status NCT02540109 Phase 2
28 A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 2a Safety, Tolerability, and Pharmacodynamic Study of Two Doses of an Histone Deacetylase Inhibitor (FRM-0334) in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
29 Treating Intention In Aphasia: Neuroplastic Substrates Completed NCT00567242 Phase 1, Phase 2
30 Effect Of Verb Network Strengthening Treatment on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
31 A Parallel, Virtual, Randomized Trial of PCT for Speech, Language, and Cognitive Intervention in Stroke Patients Completed NCT04488029 Phase 2
32 Transcranial Direct Current Stimulation and Aphasia Treatment Outcomes Completed NCT01686373 Phase 2
33 Transcranial Direct Current Stimulation and Melodic Intonation Therapy Combined With Dextroamphetamine in Chronic Stroke Patients With Non-fluent Aphasia; Safety and Efficacy Phase Completed NCT02514044 Phase 2 Dexedrine;Placebo
34 Open-label, Exploratory Study of the Efficacy of Repetitive Transcranial Magnetic Stimulation on Naming and Verbal Fluency in Patients With Alzheimer's Disease With Functional Imaging Correlates Completed NCT00814697 Phase 2
35 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
36 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
37 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
38 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
39 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
40 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
41 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
42 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
43 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
44 Treating Primary Progressive Aphasia (PPA) and Elucidating Neurodegeneration in the Language Network Using Transcranial Direct Current Stimulation (tDCS) Recruiting NCT04046991 Phase 2
45 Phase 2 Multicenter, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Assess the Efficacy, Safety, Tolerability, and Pharmacokinetics of NBI-827104 in Pediatric Subjects With Epileptic Encephalopathy With Continuous Spike-and-Wave During Sleep Recruiting NCT04625101 Phase 2 NBI-827104;Placebo
46 Speech Entrainment for Aphasia Recovery Recruiting NCT04364854 Phase 2
47 The Influence of Vascular Burden, Amyloid Plaque and Tau Protein in Patients With Vascular Cognitive Impairment and Dementia With Tauopathy Recruiting NCT04309253 Phase 2 PMPBB3;AV45
48 Low-Dose Lithium for the Treatment of Behavioral Symptoms in Frontotemporal Dementia Recruiting NCT02862210 Phase 2 Lithium Carbonate;Placebo
49 A Phase 1/2 Ascending Dose Study to Evaluate the Safety and Effects on Progranulin Levels of PR006A in Patients With Fronto-Temporal Dementia With Progranulin Mutations (FTD-GRN) Recruiting NCT04408625 Phase 1, Phase 2 Methylprednisolone;Sirolimus;Prednisone
50 A Single-Center, Open Label Study to Assess the Safety and Tolerability of Metformin in Subjects With C9orf72 Amyotrophic Lateral Sclerosis Over 24 Weeks of Treatment Recruiting NCT04220021 Phase 2 Metformin

Search NIH Clinical Center for Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation

Cochrane evidence based reviews: aphasia

Genetic Tests for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Genetic tests related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

# Genetic test Affiliating Genes
1 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 29 GRIN2A

Anatomical Context for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

MalaCards organs/tissues related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

40
Temporal Lobe, Brain, Cortex, Eye, Bone, Liver, Spinal Cord

Publications for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Articles related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

(show top 50) (show all 436)
# Title Authors PMID Year
1
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 57 6 61
23933820 2013
2
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 57 6 61
23933819 2013
3
Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. 6 57 61
7574460 1995
4
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 57 6
23933818 2013
5
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 6 57
20890276 2010
6
Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. 6 61
26806548 2016
7
Towards the identification of a genetic basis for Landau-Kleffner syndrome. 6 61
24828792 2014
8
Clinical genetic study of the epilepsy-aphasia spectrum. 57 61
23294109 2013
9
Changing perspectives on Landau-Kleffner syndrome. 57 61
21955111 2011
10
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. 57 61
20384727 2010
11
Perisylvian polymicrogyria in Landau-Kleffner syndrome. 57 61
15883344 2005
12
Landau-Kleffner syndrome: six patients including discordant monozygotic twins. 57 61
7680862 1993
13
The Landau-Kleffner syndrome--case report and theoretical considerations. 57 61
2779747 1989
14
Landau-Kleffner syndrome. EEG topographic studies. 57 61
2466418 1989
15
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
16
GRIN2A-related disorders: genotype and functional consequence predict phenotype. 6
30544257 2019
17
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 6
28102150 2017
18
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 6
27839871 2016
19
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
20
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
21
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
22
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. 6
24848745 2015
23
GRIN2A: an aptly named gene for speech dysfunction. 57
25596506 2015
24
An autosomal dominant genetically heterogeneous variant of rolandic epilepsy and speech disorder. 57
18248446 2008
25
SRPX2 mutations in disorders of language cortex and cognition. 57
16497722 2006
26
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. 6
16537520 2006
27
Syndrome of acquired aphasia with convulsive disorder in children. 57
13451887 1957
28
A follow-up study in children with status epilepticus during sleep: From clinical spectrum to outcome. 61
33640565 2021
29
Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes. 61
32912653 2021
30
Pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner Syndrome. 61
33174224 2020
31
Music processing deficits in Landau-Kleffner syndrome: Four case studies in adulthood. 61
32442777 2020
32
Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis. 61
32388139 2020
33
Differential Diagnosis of Landau-Kleffner Syndrome Versus Post Encephalitis Syndrome in a 13-year-old Boy With Autism Spectrum Disorder. 61
32850252 2020
34
Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 61
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Immunotherapy in GRIN2A-negative Landau-Kleffner Syndrome. 61
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36
Landau-Kleffner Syndrome: A Diagnostic Challenge. 61
32257722 2020
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Acquired epileptiform aphasia: 44 years after diagnosis. 61
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Sleep and Epilepsy Link by Plasticity. 61
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Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder. 61
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Epilepsy syndromes of childhood with sleep activation: Insights from functional imaging. 61
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Social cognition and psychopathology in childhood and adolescence. 61
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Epilepsy and Autism Severity: A Study of 6,975 Children. 61
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Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study. 61
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Development of Ontology for Self-limited Epilepsy with Centrotemporal Spikes and Application of Data Mining Algorithms to Identify New Subtypes. 61
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45
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. 61
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The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children. 61
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Regression in children with epilepsy. 61
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An Uncommon Presentation of Mucopolysaccharidosis Type IIIb. 61
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Benign epilepsy with centrotemporal spikes - Current concepts of diagnosis and treatment. 61
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The inhibitory effect of functional lesions on eloquent brain areas: from research bench to operating bed. 61
29595352 2018

Variations for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

ClinVar genetic disease variations for Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

6 (show top 50) (show all 722)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NEXMIF NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter) SNV Pathogenic 242323 rs758719615 GRCh37: X:73963740-73963740
GRCh38: X:74743905-74743905
2 GRIN2A NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) SNV Pathogenic 29732 rs387906637 GRCh37: 16:10032171-10032171
GRCh38: 16:9938314-9938314
3 GRIN2A NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) SNV Pathogenic 39662 rs397514557 GRCh37: 16:9923342-9923342
GRCh38: 16:9829485-9829485
4 GRIN2A NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) SNV Pathogenic 39663 rs397518450 GRCh37: 16:9928084-9928084
GRCh38: 16:9834227-9834227
5 GRIN2A NM_001134407.3(GRIN2A):c.1007+1G>A SNV Pathogenic 88727 rs397518465 GRCh37: 16:10031815-10031815
GRCh38: 16:9937958-9937958
6 GRIN2A NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) SNV Pathogenic 88728 rs397518466 GRCh37: 16:10274267-10274267
GRCh38: 16:10180410-10180410
7 GRIN2A NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) SNV Pathogenic 88729 rs397518467 GRCh37: 16:9858572-9858572
GRCh38: 16:9764715-9764715
8 GRIN2A NM_001134407.3(GRIN2A):c.1123-2A>G SNV Pathogenic 88731 rs397518469 GRCh37: 16:9943820-9943820
GRCh38: 16:9849963-9849963
9 GRIN2A NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) SNV Pathogenic 88733 rs397518471 GRCh37: 16:9923333-9923333
GRCh38: 16:9829476-9829476
10 GRIN2A NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) SNV Pathogenic 88734 rs397518472 GRCh37: 16:9916248-9916248
GRCh38: 16:9822391-9822391
11 GRIN2A NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) SNV Pathogenic 411285 rs1060503228 GRCh37: 16:9928005-9928005
GRCh38: 16:9834148-9834148
12 GRIN2A NC_000016.9:g.(?_10273835)_(10274288_?)del Deletion Pathogenic 464050 GRCh37: 16:10273835-10274288
GRCh38:
13 GRIN2A NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) SNV Pathogenic 391457 rs1057524089 GRCh37: 16:10032336-10032336
GRCh38: 16:9938479-9938479
14 GRIN2A NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) SNV Pathogenic 532718 rs1555492769 GRCh37: 16:9923386-9923386
GRCh38: 16:9829529-9829529
15 GRIN2A NC_000016.10:g.(?_9849736)_(9849981_?)del Deletion Pathogenic 532725 GRCh37: 16:9943593-9943838
GRCh38: 16:9849736-9849981
16 GRIN2A NC_000016.10:g.(?_9890966)_(9891120_?)del Deletion Pathogenic 532726 GRCh37: 16:9984823-9984977
GRCh38: 16:9890966-9891120
17 GRIN2A NM_001134407.3(GRIN2A):c.2346_2356+8del Deletion Pathogenic 421444 rs1064795143 GRCh37: 16:9892126-9892144
GRCh38: 16:9798269-9798287
18 GRIN2A NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) SNV Pathogenic 567708 rs397518470 GRCh37: 16:9934602-9934602
GRCh38: 16:9840745-9840745
19 GRIN2A NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) Deletion Pathogenic 641340 rs1596483044 GRCh37: 16:9934507-9934507
GRCh38: 16:9840650-9840650
20 GRIN2A NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter) SNV Pathogenic 640659 GRCh37: 16:9934956-9934956
GRCh38: 16:9841099-9841099
21 GRIN2A NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) Duplication Pathogenic 664825 rs1596587476 GRCh37: 16:10274201-10274202
GRCh38: 16:10180344-10180345
22 GRIN2A NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) SNV Pathogenic 812185 GRCh37: 16:9934843-9934843
GRCh38: 16:9840986-9840986
23 GRIN2A NC_000016.10:g.(?_9798257)_(9849981_?)del Deletion Pathogenic 830906 GRCh37: 16:9892114-9943838
GRCh38:
24 GRIN2A NC_000016.10:g.(?_9829403)_(9829672_?)del Deletion Pathogenic 831053 GRCh37: 16:9923260-9923529
GRCh38:
25 GRIN2A NC_000016.10:g.(?_9890966)_(10180431_?)del Deletion Pathogenic 831099 GRCh37: 16:9984823-10274288
GRCh38:
26 GRIN2A NM_001134407.3(GRIN2A):c.1123-1G>A SNV Pathogenic 839918 GRCh37: 16:9943819-9943819
GRCh38: 16:9849962-9849962
27 GRIN2A NM_001134407.3(GRIN2A):c.1123-2A>T SNV Pathogenic 813769 GRCh37: 16:9943820-9943820
GRCh38: 16:9849963-9849963
28 GRIN2A NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs) Deletion Pathogenic 813772 GRCh37: 16:9934928-9934928
GRCh38: 16:9841071-9841071
29 GRIN2A NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs) Duplication Pathogenic 813782 GRCh37: 16:9934625-9934626
GRCh38: 16:9840768-9840769
30 GRIN2A NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) SNV Pathogenic 870418 GRCh37: 16:9923348-9923348
GRCh38: 16:9829491-9829491
31 GRIN2A NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) Deletion Pathogenic 917870 GRCh37: 16:9984911-9984911
GRCh38: 16:9891054-9891054
32 GRIN2A NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) SNV Pathogenic 917871 GRCh37: 16:9892301-9892301
GRCh38: 16:9798444-9798444
33 GRIN2A NM_001134407.3(GRIN2A):c.45_49TCTGG[1] (p.Val17fs) Microsatellite Pathogenic 917872 GRCh37: 16:10274215-10274219
GRCh38: 16:10180358-10180362
34 GRIN2A NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) SNV Pathogenic 941334 GRCh37: 16:9923326-9923326
GRCh38: 16:9829469-9829469
35 GRIN2A NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) Deletion Pathogenic 948855 GRCh37: 16:9943737-9943737
GRCh38: 16:9849880-9849880
36 GRIN2A NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) SNV Pathogenic 952584 GRCh37: 16:9892164-9892164
GRCh38: 16:9798307-9798307
37 GRIN2A NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) Duplication Pathogenic 955660 GRCh37: 16:9943696-9943697
GRCh38: 16:9849839-9849840
38 GRIN2A NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) SNV Pathogenic 951823 GRCh37: 16:10031972-10031972
GRCh38: 16:9938115-9938115
39 GRIN2A NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) SNV Pathogenic 961619 GRCh37: 16:9934606-9934606
GRCh38: 16:9840749-9840749
40 GRIN2A NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) SNV Pathogenic 963123 GRCh37: 16:10031971-10031971
GRCh38: 16:9938114-9938114
41 GRIN2A NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) Duplication Pathogenic 975936 GRCh37: 16:10274089-10274090
GRCh38: 16:10180232-10180233
42 GRIN2A NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) SNV Pathogenic 1028882 GRCh37: 16:10032230-10032230
GRCh38: 16:9938373-9938373
43 GRIN2A NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) SNV Pathogenic 224990 rs869312916 GRCh37: 16:9923446-9923446
GRCh38: 16:9829589-9829589
44 GRIN2A NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) SNV Pathogenic 29733 rs397518447 GRCh37: 16:9923442-9923442
GRCh38: 16:9829585-9829585
45 GRIN2A NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) SNV Pathogenic 205656 GRCh37: 16:9916143-9916143
GRCh38: 16:9822286-9822286
46 GRIN2A NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) SNV Pathogenic/Likely pathogenic 803217 rs1064796608 GRCh37: 16:9862853-9862853
GRCh38: 16:9768996-9768996
47 GRIN2A NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) SNV Likely pathogenic 803218 rs1596494610 GRCh37: 16:9943613-9943613
GRCh38: 16:9849756-9849756
48 GRIN2A NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) SNV Likely pathogenic 650867 rs1360906241 GRCh37: 16:9934645-9934645
GRCh38: 16:9840788-9840788
49 GRIN2A NM_001134407.3(GRIN2A):c.2007+1del Deletion Likely pathogenic 800809 rs1596471698 GRCh37: 16:9923279-9923279
GRCh38: 16:9829422-9829422
50 GRIN2A NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu) SNV Likely pathogenic 813787 GRCh37: 16:9934917-9934917
GRCh38: 16:9841060-9841060

UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation:

72 (show all 31)
# Symbol AA change Variation ID SNP ID
1 GRIN2A p.Asn615Lys VAR_065899 rs397518447
2 GRIN2A p.Pro552Arg VAR_069382 rs397518450
3 GRIN2A p.Leu649Val VAR_069383 rs397514557
4 GRIN2A p.Pro79Arg VAR_070345 rs125066289
5 GRIN2A p.Ala243Val VAR_070348
6 GRIN2A p.Ala290Val VAR_070349 rs199528312
7 GRIN2A p.Arg370Trp VAR_070351 rs761168789
8 GRIN2A p.Cys436Arg VAR_070352 rs155549611
9 GRIN2A p.Gly483Arg VAR_070353
10 GRIN2A p.Arg504Trp VAR_070354 rs136090624
11 GRIN2A p.Arg518His VAR_070355 rs397518470
12 GRIN2A p.Thr531Met VAR_070356 rs397518468
13 GRIN2A p.Ala548Thr VAR_070358
14 GRIN2A p.Phe652Val VAR_070359 rs397518471
15 GRIN2A p.Lys669Asn VAR_070360
16 GRIN2A p.Ile694Thr VAR_070361
17 GRIN2A p.Pro699Ser VAR_070362 rs155549164
18 GRIN2A p.Met705Val VAR_070363
19 GRIN2A p.Glu714Lys VAR_070364
20 GRIN2A p.Ala716Thr VAR_070365 rs762659685
21 GRIN2A p.Ala727Thr VAR_070366 rs155548814
22 GRIN2A p.Asp731Asn VAR_070367 rs796052549
23 GRIN2A p.Val734Leu VAR_070368
24 GRIN2A p.Lys772Glu VAR_070369
25 GRIN2A p.Ile904Phe VAR_070371 rs155548293
26 GRIN2A p.Asn976Ser VAR_070373 rs886039239
27 GRIN2A p.Asp1251Asn VAR_070374
28 GRIN2A p.Met817Val VAR_071626 rs796052551
29 GRIN2A p.Leu812Met VAR_072750
30 GRIN2A p.Val506Ala VAR_079933 rs796052543
31 GRIN2A p.Val685Gly VAR_079935 rs796052548

Expression for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Search GEO for disease gene expression data for Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation.

Pathways for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Pathways related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 GRIN2B GRIN2A
2
Show member pathways
11.47 GRIN2B GRIN2A
3
Show member pathways
11.36 GRIN2B GRIN2A
4 11.24 GRIN2B GRIN2A
5 10.92 GRIN2B GRIN2A
6 10.72 GRIN2B GRIN2A
7 10.62 GRIN2B GRIN2A
8 10.35 GRIN2B GRIN2A
9 9.95 GRIN2B GRIN2A

GO Terms for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

Cellular components related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 presynaptic membrane GO:0042734 9.26 ITSN2 GRIN2A
2 postsynaptic density membrane GO:0098839 9.16 GRIN2B GRIN2A
3 synaptic membrane GO:0097060 8.96 GRIN2B GRIN2A
4 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN2B GRIN2A

Biological processes related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.49 GRIN2B GRIN2A
2 calcium-mediated signaling GO:0019722 9.48 GRIN2B GRIN2A
3 learning or memory GO:0007611 9.46 GRIN2B GRIN2A
4 excitatory postsynaptic potential GO:0060079 9.43 GRIN2B GRIN2A
5 regulation of synaptic plasticity GO:0048167 9.4 GRIN2B GRIN2A
6 long-term synaptic potentiation GO:0060291 9.37 GRIN2B GRIN2A
7 regulation of NMDA receptor activity GO:2000310 9.32 GRIN2B GRIN2A
8 ionotropic glutamate receptor signaling pathway GO:0035235 9.26 GRIN2B GRIN2A
9 glutamate receptor signaling pathway GO:0007215 9.16 GRIN2B GRIN2A
10 excitatory chemical synaptic transmission GO:0098976 8.96 GRIN2B GRIN2A
11 calcium ion transmembrane import into cytosol GO:0097553 8.62 GRIN2B GRIN2A

Molecular functions related to Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.32 GRIN2B GRIN2A
2 ligand-gated ion channel activity GO:0015276 9.26 GRIN2B GRIN2A
3 ionotropic glutamate receptor activity GO:0004970 9.16 GRIN2B GRIN2A
4 NMDA glutamate receptor activity GO:0004972 8.96 GRIN2B GRIN2A
5 glutamate-gated calcium ion channel activity GO:0022849 8.62 GRIN2B GRIN2A

Sources for Epilepsy, Focal, with Speech Disorder and with or Without Mental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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