FESD
MCID: EPL118
MIFTS: 44

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 brain and temporal lobe, 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 61)
# Related Disease Score Top Affiliating Genes
1 landau-kleffner syndrome 30.1 GRIN2A ITSN2
2 focal epilepsy 29.8 GRIN2A GRIN2B
3 centralopathic epilepsy 12.5
4 benign epilepsy with centrotemporal spikes 11.9
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 10.5
12 auditory agnosia 10.5
13 status epilepticus 10.5
14 agnosia 10.5
15 encephalopathy 10.5
16 celiac disease 1 10.3
17 dysphasia, familial developmental 10.3
18 porphyria, acute hepatic 10.3
19 pervasive developmental disorder 10.3
20 verbal auditory agnosia 10.3
21 stuttering 10.3
22 specific language impairment 10.3
23 cysticercosis 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 hydrocephalus 10.2
31 attention deficit-hyperactivity disorder 10.1
32 rett syndrome 10.1
33 chromosome 22q11.2 duplication syndrome 10.1
34 pol iii-related leukodystrophies 10.1
35 periventricular leukomalacia 10.1
36 leukomalacia 10.1
37 nasopharyngeal carcinoma 10.0
38 scoliosis 10.0
39 interstitial cystitis 10.0
40 cystitis 10.0
41 dwarfism 10.0
42 electroclinical syndrome 10.0
43 benign neonatal seizures 10.0
44 homocystinuria 10.0
45 myoclonus 10.0
46 bile acid synthesis defect, congenital, 1 10.0 GRIN2A GRIN2B
47 fetal alcohol spectrum disorder 10.0 GRIN2A GRIN2B
48 visual agnosia 10.0
49 cryptococcal meningitis 10.0
50 cervicitis 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

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
Brain, Temporal Lobe

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

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 692)
# Gene Variation Type Significance SNP ID Assembly Location
1 SPTAN1 NM_001130438.2(SPTAN1): c.3133C> T (p.Arg1045Trp) single nucleotide variant Uncertain significance rs794727356 GRCh37 Chromosome 9, 131353882: 131353882
2 SPTAN1 NM_001130438.2(SPTAN1): c.3133C> T (p.Arg1045Trp) single nucleotide variant Uncertain significance rs794727356 GRCh38 Chromosome 9, 128591603: 128591603
3 GRIN2A NM_000833.4(GRIN2A): c.225C> T (p.Asn75=) single nucleotide variant Benign/Likely benign rs527686036 GRCh37 Chromosome 16, 10274044: 10274044
4 GRIN2A NM_000833.4(GRIN2A): c.225C> T (p.Asn75=) single nucleotide variant Benign/Likely benign rs527686036 GRCh38 Chromosome 16, 10180187: 10180187
5 GRIN2A NM_000833.4(GRIN2A): c.76G> T (p.Ala26Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs751198815 GRCh38 Chromosome 16, 10180336: 10180336
6 GRIN2A NM_000833.4(GRIN2A): c.76G> T (p.Ala26Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs751198815 GRCh37 Chromosome 16, 10274193: 10274193
7 GRIN2A NM_000833.4(GRIN2A): c.-209-11C> T single nucleotide variant Benign/Likely benign rs139646156 GRCh37 Chromosome 16, 10275935: 10275935
8 GRIN2A NM_000833.4(GRIN2A): c.-209-11C> T single nucleotide variant Benign/Likely benign rs139646156 GRCh38 Chromosome 16, 10182078: 10182078
9 GRIN2A NM_000833.4(GRIN2A): c.4330G> A (p.Val1444Ile) single nucleotide variant Uncertain significance rs150574045 GRCh38 Chromosome 16, 9763214: 9763214
10 GRIN2A NM_000833.4(GRIN2A): c.4330G> A (p.Val1444Ile) single nucleotide variant Uncertain significance rs150574045 GRCh37 Chromosome 16, 9857071: 9857071
11 GRIN2A NM_000833.4(GRIN2A): c.4307A> G (p.Asn1436Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs77029288 GRCh38 Chromosome 16, 9763237: 9763237
12 GRIN2A NM_000833.4(GRIN2A): c.4307A> G (p.Asn1436Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs77029288 GRCh37 Chromosome 16, 9857094: 9857094
13 GRIN2A NM_000833.4(GRIN2A): c.3961G> C (p.Glu1321Gln) single nucleotide variant Uncertain significance rs370754278 GRCh38 Chromosome 16, 9763583: 9763583
14 GRIN2A NM_000833.4(GRIN2A): c.3961G> C (p.Glu1321Gln) single nucleotide variant Uncertain significance rs370754278 GRCh37 Chromosome 16, 9857440: 9857440
15 GRIN2A NM_000833.4(GRIN2A): c.3884T> C (p.Ile1295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs757351084 GRCh38 Chromosome 16, 9763660: 9763660
16 GRIN2A NM_000833.4(GRIN2A): c.3884T> C (p.Ile1295Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs757351084 GRCh37 Chromosome 16, 9857517: 9857517
17 GRIN2A NM_000833.4(GRIN2A): c.3827C> G (p.Ala1276Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145063086 GRCh38 Chromosome 16, 9763717: 9763717
18 GRIN2A NM_000833.4(GRIN2A): c.3827C> G (p.Ala1276Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145063086 GRCh37 Chromosome 16, 9857574: 9857574
19 GRIN2A NM_000833.4(GRIN2A): c.3622C> A (p.Arg1208=) single nucleotide variant Benign/Likely benign rs78544202 GRCh38 Chromosome 16, 9763922: 9763922
20 GRIN2A NM_000833.4(GRIN2A): c.3622C> A (p.Arg1208=) single nucleotide variant Benign/Likely benign rs78544202 GRCh37 Chromosome 16, 9857779: 9857779
21 GRIN2A NM_000833.4(GRIN2A): c.3363T> G (p.Asp1121Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs764292783 GRCh38 Chromosome 16, 9764181: 9764181
22 GRIN2A NM_000833.4(GRIN2A): c.3363T> G (p.Asp1121Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs764292783 GRCh37 Chromosome 16, 9858038: 9858038
23 GRIN2A NM_000833.4(GRIN2A): c.3190A> G (p.Thr1064Ala) single nucleotide variant Benign/Likely benign rs138809301 GRCh38 Chromosome 16, 9764354: 9764354
24 GRIN2A NM_000833.4(GRIN2A): c.3190A> G (p.Thr1064Ala) single nucleotide variant Benign/Likely benign rs138809301 GRCh37 Chromosome 16, 9858211: 9858211
25 GRIN2A NM_000833.4(GRIN2A): c.2907C> G (p.Asn969Lys) single nucleotide variant Uncertain significance rs772589363 GRCh38 Chromosome 16, 9764637: 9764637
26 GRIN2A NM_000833.4(GRIN2A): c.2907C> G (p.Asn969Lys) single nucleotide variant Uncertain significance rs772589363 GRCh37 Chromosome 16, 9858494: 9858494
27 GRIN2A NM_000833.4(GRIN2A): c.2852G> T (p.Gly951Val) single nucleotide variant Likely benign rs139795367 GRCh38 Chromosome 16, 9764692: 9764692
28 GRIN2A NM_000833.4(GRIN2A): c.2852G> T (p.Gly951Val) single nucleotide variant Likely benign rs139795367 GRCh37 Chromosome 16, 9858549: 9858549
29 GRIN2A NM_000833.4(GRIN2A): c.2765C> T (p.Ala922Val) single nucleotide variant Uncertain significance rs200037904 GRCh38 Chromosome 16, 9764779: 9764779
30 GRIN2A NM_000833.4(GRIN2A): c.2765C> T (p.Ala922Val) single nucleotide variant Uncertain significance rs200037904 GRCh37 Chromosome 16, 9858636: 9858636
31 GRIN2A NM_000833.4(GRIN2A): c.2695C> T (p.Arg899Trp) single nucleotide variant Uncertain significance rs796052553 GRCh38 Chromosome 16, 9764849: 9764849
32 GRIN2A NM_000833.4(GRIN2A): c.2695C> T (p.Arg899Trp) single nucleotide variant Uncertain significance rs796052553 GRCh37 Chromosome 16, 9858706: 9858706
33 GRIN2A NM_000833.4(GRIN2A): c.2627T> C (p.Ile876Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199784503 GRCh38 Chromosome 16, 9764917: 9764917
34 GRIN2A NM_000833.4(GRIN2A): c.2627T> C (p.Ile876Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199784503 GRCh37 Chromosome 16, 9858774: 9858774
35 GRIN2A NM_000833.4(GRIN2A): c.2563G> A (p.Asp855Asn) single nucleotide variant Uncertain significance rs796052564 GRCh38 Chromosome 16, 9768883: 9768883
36 GRIN2A NM_000833.4(GRIN2A): c.2563G> A (p.Asp855Asn) single nucleotide variant Uncertain significance rs796052564 GRCh37 Chromosome 16, 9862740: 9862740
37 GRIN2A NM_000833.4(GRIN2A): c.2197G> A (p.Ala733Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796052550 GRCh37 Chromosome 16, 9892293: 9892293
38 GRIN2A NM_000833.4(GRIN2A): c.2197G> A (p.Ala733Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796052550 GRCh38 Chromosome 16, 9798436: 9798436
39 GRIN2A NM_000833.4(GRIN2A): c.2146G> A (p.Ala716Thr) single nucleotide variant Likely pathogenic rs762659685 GRCh38 Chromosome 16, 9822286: 9822286
40 GRIN2A NM_000833.4(GRIN2A): c.2146G> A (p.Ala716Thr) single nucleotide variant Likely pathogenic rs762659685 GRCh37 Chromosome 16, 9916143: 9916143
41 GRIN2A NM_000833.4(GRIN2A): c.1354G> A (p.Val452Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145956175 GRCh37 Chromosome 16, 9934936: 9934936
42 GRIN2A NM_000833.4(GRIN2A): c.1354G> A (p.Val452Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145956175 GRCh38 Chromosome 16, 9841079: 9841079
43 GRIN2A NM_000833.4(GRIN2A): c.939C> T (p.Ile313=) single nucleotide variant Benign/Likely benign rs146867324 GRCh37 Chromosome 16, 10031884: 10031884
44 GRIN2A NM_000833.4(GRIN2A): c.939C> T (p.Ile313=) single nucleotide variant Benign/Likely benign rs146867324 GRCh38 Chromosome 16, 9938027: 9938027
45 GRIN2A NM_000833.4(GRIN2A): c.422C> T (p.Thr141Met) single nucleotide variant Benign/Likely benign rs78631453 GRCh38 Chromosome 16, 9938544: 9938544
46 GRIN2A NM_000833.4(GRIN2A): c.422C> T (p.Thr141Met) single nucleotide variant Benign/Likely benign rs78631453 GRCh37 Chromosome 16, 10032401: 10032401
47 KCNQ2 NM_172107.3(KCNQ2): c.2329C> T (p.Pro777Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs748400155 GRCh37 Chromosome 20, 62038287: 62038287
48 KCNQ2 NM_172107.3(KCNQ2): c.2329C> T (p.Pro777Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs748400155 GRCh38 Chromosome 20, 63406934: 63406934
49 GRIN2A NM_000833.4(GRIN2A): c.314A> G (p.Asp105Gly) single nucleotide variant Likely benign rs797045015 GRCh37 Chromosome 16, 10273955: 10273955
50 GRIN2A NM_000833.4(GRIN2A): c.314A> G (p.Asp105Gly) single nucleotide variant Likely benign rs797045015 GRCh38 Chromosome 16, 10180098: 10180098

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 9.32 GRIN2A GRIN2B
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.26 GRIN2A GRIN2B
3 ionotropic glutamate receptor activity GO:0004970 9.16 GRIN2A GRIN2B
4 NMDA glutamate receptor activity GO:0004972 8.96 GRIN2A GRIN2B
5 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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