FESD
MCID: EPL118
MIFTS: 46

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 58 76 30 6 74
Continuous Spike and Waves During Slow-Wave Sleep Syndrome 76 6 74
Landau-Kleffner Syndrome 60 76 74
Fesd 58 76
Csws 60 76
Lks 60 76
Autosomal Dominant Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia 76
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 74
Epileptic Encephalopathy with Continuous Spike-and-Wave During Slow Sleep 60
Benign Epilepsy of Childhood with Centrotemporal Spikes 76
Continuous Spikes and Waves During Slow-Wave Sleep 60
Continuous Spikes and Waves During Sleep 60
Aphasia, Acquired, with Epilepsy 58
Acquired Aphasia with Epilepsy 76
Acquired Epileptic Aphasia 60
Benign Rolandic Epilepsy 74
Cswss Syndrome 60
Aphasia 74
Adresd 76
Resdad 76
Bects 76
Cswss 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
highly variable severity
onset of seizures in infancy or early childhood
seizures may remit in adolescence


HPO:

33
epilepsy, focal, with speech disorder and with or without mental retardation:
Onset and clinical course variable expressivity incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


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

OMIM : 58 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)

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 landau-kleffner syndrome and focal epilepsy, 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 Protein-protein interactions at synapses and Amphetamine addiction. Affiliated tissues include temporal lobe and brain, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 76 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 64)
# Related Disease Score Top Affiliating Genes
1 landau-kleffner syndrome 30.0 GRIN2A ITSN2
2 focal epilepsy 29.9 GRIN2A GRIN2B
3 centralopathic epilepsy 12.5
4 benign epilepsy with centrotemporal spikes 12.0
5 epilepsy-aphasia spectrum 11.7
6 continuous spike-wave during slow sleep syndrome 11.5
7 vohwinkel syndrome, variant form 11.1
8 chromosome xp11.23-p11.22 duplication syndrome 11.1
9 aphasia 11.0
10 epilepsy 10.6
11 autism 10.6
12 auditory agnosia 10.6
13 status epilepticus 10.6
14 agnosia 10.6
15 cysticercosis 10.5
16 encephalopathy 10.5
17 celiac disease 1 10.3
18 dysphasia, familial developmental 10.3
19 porphyria, acute hepatic 10.3
20 pervasive developmental disorder 10.3
21 verbal auditory agnosia 10.3
22 stuttering 10.3
23 specific language impairment 10.3
24 cerebral arteritis 10.3
25 astrocytoma 10.3
26 demyelinating disease 10.3
27 encephalitis 10.3
28 polymicrogyria 10.3
29 temporal lobe epilepsy 10.3
30 seizure disorder 10.3
31 epileptic encephalopathy, early infantile, 37 10.3
32 hydrocephalus 10.3
33 attention deficit-hyperactivity disorder 10.1
34 rett syndrome 10.1
35 chromosome 22q11.2 duplication syndrome 10.1
36 pol iii-related leukodystrophies 10.1
37 periventricular leukomalacia 10.1
38 leukomalacia 10.1
39 bile acid synthesis defect, congenital, 1 10.1 GRIN2A GRIN2B
40 nasopharyngeal carcinoma 10.0
41 scoliosis 10.0
42 interstitial cystitis 10.0
43 cystitis 10.0
44 dwarfism 10.0
45 electroclinical syndrome 10.0
46 benign neonatal seizures 10.0
47 homocystinuria 10.0
48 myoclonus 10.0
49 fetal alcohol spectrum disorder 10.0 GRIN2A GRIN2B
50 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 10.0

Comorbidity relations with Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation via Phenotypic Disease Network (PDN): (show all 38)


Active Peptic Ulcer Disease Acute Cystitis
Aortic Valve Disease 1 Benign Essential Hypertension
Brain Cancer Brain Edema
Cerebral Atherosclerosis Cerebral Degeneration
Cerebrovascular Disease Chronic Myocardial Ischemia
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 Ischemic Heart Disease
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:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 occasional (7.5%) HP:0001249
2 global developmental delay 33 occasional (7.5%) HP:0001263
3 seizures 33 HP:0001250
4 dysphasia 33 HP:0002357
5 behavioral abnormality 33 HP:0000708
6 delayed speech and language development 33 HP:0000750
7 attention deficit hyperactivity disorder 33 HP:0007018
8 aphasia 33 HP:0002381
9 speech apraxia 33 HP:0011098
10 agnosia 33 HP:0010524
11 eeg with centrotemporal focal spike waves 33 HP:0012557

Symptoms via clinical synopsis from OMIM:

58
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

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


seizures, tremor, fever, dyspnea, edema, back pain, cachexia, vertigo, pain, headache, syncope, scanning speech, cyanosis, 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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 8.62 GRIN2A GRIN2B

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

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

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 30 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:

42
Temporal Lobe, Brain

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:

# Title Authors Year
1
A KCNQ2 E515D mutation associated with benign familial neonatal seizures and continuous spike and waves during slow-wave sleep syndrome in Taiwan. ( 28038823 )
2017
2
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. ( 23933818 )
2013
3
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. ( 23933820 )
2013
4
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. ( 23933819 )
2013
5
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. ( 20890276 )
2010
6
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. ( 16537520 )
2006
7
Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. ( 7574460 )
1995

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

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

76 (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
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
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
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
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

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

6 (show top 50) (show all 696)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN2A NM_000833.4(GRIN2A): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs387906637 GRCh37 Chromosome 16, 10032171: 10032171
2 GRIN2A NM_000833.4(GRIN2A): c.652C> T (p.Gln218Ter) single nucleotide variant Pathogenic rs387906637 GRCh38 Chromosome 16, 9938314: 9938314
3 GRIN2A NM_000833.4(GRIN2A): c.1845C> A (p.Asn615Lys) single nucleotide variant Pathogenic rs397518447 GRCh37 Chromosome 16, 9923442: 9923442
4 GRIN2A NM_000833.4(GRIN2A): c.1845C> A (p.Asn615Lys) single nucleotide variant Pathogenic rs397518447 GRCh38 Chromosome 16, 9829585: 9829585
5 GRIN2A NM_000833.4(GRIN2A): c.1945C> G (p.Leu649Val) single nucleotide variant Pathogenic rs397514557 GRCh37 Chromosome 16, 9923342: 9923342
6 GRIN2A NM_000833.4(GRIN2A): c.1945C> G (p.Leu649Val) single nucleotide variant Pathogenic rs397514557 GRCh38 Chromosome 16, 9829485: 9829485
7 GRIN2A NM_000833.4(GRIN2A): c.1655C> G (p.Pro552Arg) single nucleotide variant Pathogenic rs397518450 GRCh37 Chromosome 16, 9928084: 9928084
8 GRIN2A NM_000833.4(GRIN2A): c.1655C> G (p.Pro552Arg) single nucleotide variant Pathogenic rs397518450 GRCh38 Chromosome 16, 9834227: 9834227
9 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh37 Chromosome 16, 10031815: 10031815
10 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh38 Chromosome 16, 9937958: 9937958
11 GRIN2A NM_000833.4(GRIN2A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397518466 GRCh37 Chromosome 16, 10274267: 10274267
12 GRIN2A NM_000833.4(GRIN2A): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs397518466 GRCh38 Chromosome 16, 10180410: 10180410
13 GRIN2A NM_000833.4(GRIN2A): c.2829C> G (p.Tyr943Ter) single nucleotide variant Pathogenic rs397518467 GRCh37 Chromosome 16, 9858572: 9858572
14 GRIN2A NM_000833.4(GRIN2A): c.2829C> G (p.Tyr943Ter) single nucleotide variant Pathogenic rs397518467 GRCh38 Chromosome 16, 9764715: 9764715
15 GRIN2A NM_000833.4(GRIN2A): c.1592C> T (p.Thr531Met) single nucleotide variant Pathogenic rs397518468 GRCh37 Chromosome 16, 9934563: 9934563
16 GRIN2A NM_000833.4(GRIN2A): c.1592C> T (p.Thr531Met) single nucleotide variant Pathogenic rs397518468 GRCh38 Chromosome 16, 9840706: 9840706
17 GRIN2A NM_000833.4(GRIN2A): c.1123-2A> G single nucleotide variant Pathogenic rs397518469 GRCh37 Chromosome 16, 9943820: 9943820
18 GRIN2A NM_000833.4(GRIN2A): c.1123-2A> G single nucleotide variant Pathogenic rs397518469 GRCh38 Chromosome 16, 9849963: 9849963
19 GRIN2A NM_000833.4(GRIN2A): c.1553G> A (p.Arg518His) single nucleotide variant Pathogenic/Likely pathogenic rs397518470 GRCh37 Chromosome 16, 9934602: 9934602
20 GRIN2A NM_000833.4(GRIN2A): c.1553G> A (p.Arg518His) single nucleotide variant Pathogenic/Likely pathogenic rs397518470 GRCh38 Chromosome 16, 9840745: 9840745
21 GRIN2A NM_000833.4(GRIN2A): c.1954T> G (p.Phe652Val) single nucleotide variant Pathogenic rs397518471 GRCh37 Chromosome 16, 9923333: 9923333
22 GRIN2A NM_000833.4(GRIN2A): c.1954T> G (p.Phe652Val) single nucleotide variant Pathogenic rs397518471 GRCh38 Chromosome 16, 9829476: 9829476
23 GRIN2A NM_000833.4(GRIN2A): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs397518472 GRCh37 Chromosome 16, 9916248: 9916248
24 GRIN2A NM_000833.4(GRIN2A): c.2041C> T (p.Arg681Ter) single nucleotide variant Pathogenic rs397518472 GRCh38 Chromosome 16, 9822391: 9822391
25 GRIN2A NM_000833.4(GRIN2A): c.623C> T (p.Thr208Ile) single nucleotide variant Uncertain significance rs367543124 GRCh37 Chromosome 16, 10032200: 10032200
26 GRIN2A NM_000833.4(GRIN2A): c.623C> T (p.Thr208Ile) single nucleotide variant Uncertain significance rs367543124 GRCh38 Chromosome 16, 9938343: 9938343
27 GRIN2A NM_000833.4(GRIN2A): c.60T> C (p.Gly20=) single nucleotide variant Likely benign rs367543130 GRCh37 Chromosome 16, 10274209: 10274209
28 GRIN2A NM_000833.4(GRIN2A): c.60T> C (p.Gly20=) single nucleotide variant Likely benign rs367543130 GRCh38 Chromosome 16, 10180352: 10180352
29 GRIN2A NM_000833.4(GRIN2A): c.38C> T (p.Pro13Leu) single nucleotide variant Uncertain significance rs367543131 GRCh37 Chromosome 16, 10274231: 10274231
30 GRIN2A NM_000833.4(GRIN2A): c.38C> T (p.Pro13Leu) single nucleotide variant Uncertain significance rs367543131 GRCh38 Chromosome 16, 10180374: 10180374
31 GRIN2A NM_000833.4(GRIN2A): c.3854G> A (p.Arg1285Lys) single nucleotide variant Uncertain significance rs367543132 GRCh37 Chromosome 16, 9857547: 9857547
32 GRIN2A NM_000833.4(GRIN2A): c.3854G> A (p.Arg1285Lys) single nucleotide variant Uncertain significance rs367543132 GRCh38 Chromosome 16, 9763690: 9763690
33 GRIN2A NM_000833.4(GRIN2A): c.1780C> T (p.Pro594Ser) single nucleotide variant Uncertain significance rs367543140 GRCh37 Chromosome 16, 9923507: 9923507
34 GRIN2A NM_000833.4(GRIN2A): c.1780C> T (p.Pro594Ser) single nucleotide variant Uncertain significance rs367543140 GRCh38 Chromosome 16, 9829650: 9829650
35 GRIN2A NM_000833.4(GRIN2A): c.3702C> T (p.Phe1234=) single nucleotide variant Conflicting interpretations of pathogenicity rs372083517 GRCh38 Chromosome 16, 9763842: 9763842
36 GRIN2A NM_000833.4(GRIN2A): c.3702C> T (p.Phe1234=) single nucleotide variant Conflicting interpretations of pathogenicity rs372083517 GRCh37 Chromosome 16, 9857699: 9857699
37 GRIN2A NM_000833.4(GRIN2A): c.402C> T (p.Ile134=) single nucleotide variant Likely benign rs587780352 GRCh38 Chromosome 16, 10180010: 10180010
38 GRIN2A NM_000833.4(GRIN2A): c.402C> T (p.Ile134=) single nucleotide variant Likely benign rs587780352 GRCh37 Chromosome 16, 10273867: 10273867
39 GRIN2A NM_000833.4(GRIN2A): c.1275G> A (p.Leu425=) single nucleotide variant Benign rs2229193 GRCh37 Chromosome 16, 9943666: 9943666
40 GRIN2A NM_000833.4(GRIN2A): c.1275G> A (p.Leu425=) single nucleotide variant Benign rs2229193 GRCh38 Chromosome 16, 9849809: 9849809
41 GRIN2A NM_000833.4(GRIN2A): c.1329-8C> T single nucleotide variant Benign rs7193290 GRCh37 Chromosome 16, 9934969: 9934969
42 GRIN2A NM_000833.4(GRIN2A): c.1329-8C> T single nucleotide variant Benign rs7193290 GRCh38 Chromosome 16, 9841112: 9841112
43 GRIN2A NM_000833.4(GRIN2A): c.2085G> C (p.Arg695=) single nucleotide variant Benign rs9806806 GRCh37 Chromosome 16, 9916204: 9916204
44 GRIN2A NM_000833.4(GRIN2A): c.2085G> C (p.Arg695=) single nucleotide variant Benign rs9806806 GRCh38 Chromosome 16, 9822347: 9822347
45 GRIN2A NM_000833.4(GRIN2A): c.2190C> T (p.Tyr730=) single nucleotide variant Benign/Likely benign rs61753382 GRCh37 Chromosome 16, 9892300: 9892300
46 GRIN2A NM_000833.4(GRIN2A): c.2190C> T (p.Tyr730=) single nucleotide variant Benign/Likely benign rs61753382 GRCh38 Chromosome 16, 9798443: 9798443
47 GRIN2A NM_000833.4(GRIN2A): c.2883C> T (p.Asn961=) single nucleotide variant Conflicting interpretations of pathogenicity rs77705198 GRCh37 Chromosome 16, 9858518: 9858518
48 GRIN2A NM_000833.4(GRIN2A): c.2883C> T (p.Asn961=) single nucleotide variant Conflicting interpretations of pathogenicity rs77705198 GRCh38 Chromosome 16, 9764661: 9764661
49 GRIN2A NM_000833.4(GRIN2A): c.2899G> C (p.Val967Leu) single nucleotide variant Benign/Likely benign rs61731465 GRCh37 Chromosome 16, 9858502: 9858502
50 GRIN2A NM_000833.4(GRIN2A): c.2899G> C (p.Val967Leu) single nucleotide variant Benign/Likely benign rs61731465 GRCh38 Chromosome 16, 9764645: 9764645

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
11.57 GRIN2A GRIN2B
2
Show member pathways
11.5 GRIN2A GRIN2B
3
Show member pathways
11.46 GRIN2A GRIN2B
4
Show member pathways
11.33 GRIN2A GRIN2B
5 11.19 GRIN2A GRIN2B
6 10.86 GRIN2A GRIN2B
7 10.62 GRIN2A GRIN2B
8 10.42 GRIN2A GRIN2B
9 9.95 GRIN2A GRIN2B

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 synapse GO:0045202 9.43 FRRS1L GRIN2A GRIN2B
2 synaptic membrane GO:0097060 9.16 GRIN2A GRIN2B
3 postsynaptic density membrane GO:0098839 8.96 GRIN2A GRIN2B
4 NMDA selective glutamate receptor complex GO:0017146 8.62 GRIN2A GRIN2B

Biological processes 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 response to ethanol GO:0045471 9.48 GRIN2A GRIN2B
2 calcium-mediated signaling GO:0019722 9.46 GRIN2A GRIN2B
3 excitatory postsynaptic potential GO:0060079 9.43 GRIN2A GRIN2B
4 learning or memory GO:0007611 9.4 GRIN2A GRIN2B
5 regulation of synaptic plasticity GO:0048167 9.37 GRIN2A GRIN2B
6 long-term synaptic potentiation GO:0060291 9.32 GRIN2A GRIN2B
7 ionotropic glutamate receptor signaling pathway GO:0035235 9.26 GRIN2A GRIN2B
8 glutamate receptor signaling pathway GO:0007215 9.16 GRIN2A GRIN2B
9 excitatory chemical synaptic transmission GO:0098976 8.96 GRIN2A GRIN2B
10 calcium ion transmembrane import into cytosol GO:0097553 8.62 GRIN2A GRIN2B

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 ion channel activity GO:0005216 9.26 GRIN2A GRIN2B
2 ionotropic glutamate receptor activity GO:0004970 9.16 GRIN2A GRIN2B
3 NMDA glutamate receptor activity GO:0004972 8.96 GRIN2A GRIN2B
4 glutamate-gated calcium ion channel activity GO:0022849 8.62 GRIN2A GRIN2B

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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