GRIN2A gene related symptoms and diseases

All the information presented here about the GRIN2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to GRIN2A gene

Symptoms // Phenotype	% Cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Abnormal facial shape	Uncommon - Between 30% and 50% cases
Seizures	Uncommon - Between 30% and 50% cases
Microcephaly	Uncommon - Between 30% and 50% cases
Global developmental delay	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with GRIN2A gene alterations may also develop some of the following symptoms and phenotypes:

Rarely - Less than 30% cases
EEG abnormality
Intellectual disability, moderate
Developmental regression
Autistic behavior
Attention deficit hyperactivity disorder
Neurological speech impairment
Polymicrogyria
Generalized myoclonic seizures

And 51 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to GRIN2A gene

Here you will find a list of rare diseases related to the GRIN2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

LANDAU-KLEFFNER SYNDROME

Alternate names

LANDAU-KLEFFNER SYNDROME Is also known as lks, acquired epileptic aphasia

Description

Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.

More info about LANDAU-KLEFFNER SYNDROME

SOURCES: ORPHANET

ROLANDIC EPILEPSY

Alternate names

ROLANDIC EPILEPSY Is also known as becrs, bre, benign rolandic epilepsy, bects, centrotemporal epilepsy, benign epilepsy of childhood with centrotemporal spikes, benign familial epilepsy of childhood with rolandic spikes

Description

Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

Most common symptoms of ROLANDIC EPILEPSY

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Abnormal facial shape

More info about ROLANDIC EPILEPSY

SOURCES: ORPHANET OMIM

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Alternate names

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Description

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).

Most common symptoms of EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

SOURCES: OMIM

CONTINUOUS SPIKES AND WAVES DURING SLEEP

Alternate names

CONTINUOUS SPIKES AND WAVES DURING SLEEP Is also known as epileptic encephalopathy with continuous spike-and-wave during slow sleep, cswss syndrome, csws, continuous spikes and waves during slow-wave sleep

Description

Continuous spikes and waves during sleep (CSWS) is a rare epileptic encephalopathy of childhood characterized by seizures, an electroencephalographic (EEG) pattern of electrical status epilepticus in sleep (ESES) and neurocognitive regression in at least 2 domains of development.

More info about CONTINUOUS SPIKES AND WAVES DURING SLEEP

SOURCES: ORPHANET

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY AND INTELLECTUAL DISABILITY DUE TO GRIN2A MUTATION

Description

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.

More info about EARLY-ONSET EPILEPTIC ENCEPHALOPATHY AND INTELLECTUAL DISABILITY DUE TO GRIN2A MUTATION

SOURCES: ORPHANET

ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME

Description

Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.

More info about ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME

SOURCES: ORPHANET

Search interest in GRIN2A

Potential gene panels for GRIN2A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

United States.

By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1

GRIN2A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to GRIN2A gene

Other less frequent symptoms and clinical features

Rarely - Less than 30% cases

Rare diseases associated to GRIN2A gene

LANDAU-KLEFFNER SYNDROME

Alternate names

Description

ROLANDIC EPILEPSY

Alternate names

Description

Most common symptoms of ROLANDIC EPILEPSY

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Alternate names

Description

Most common symptoms of EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

CONTINUOUS SPIKES AND WAVES DURING SLEEP

Alternate names

Description

EARLY-ONSET EPILEPTIC ENCEPHALOPATHY AND INTELLECTUAL DISABILITY DUE TO GRIN2A MUTATION

Description

ROLANDIC EPILEPSY-SPEECH DYSPRAXIA SYNDROME

Description

Search interest in GRIN2A

Potential gene panels for GRIN2A gene

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Panel

NGS Epilepsy/Seizure Panel Panel

Autism Spectrum Disorders 53-Gene Panel Panel

Childhood Epilepsy Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

GRIN2A sequencing Panel

Non-Specific Intellectual Disability Panel Panel

Early Infantile Epileptic Encephalopathy Panel Panel

Epilepsy Panel - Comprehensive Panel

Comprehensive Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpiFirst-Focal Panel

EpiFirst-Infantile Spasms Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

GRIN2A. Complete sequencing Panel

Rapid Epilepsy Seq Analysis Panel

Rapid Epilepsy Seq + Del/Dup Panel Panel

CHOP Epilepsy Panel Panel

Rapid Epilepsy Del/Dup Panel Panel

Epilepsy with neurodevelopmental defects (sequence analysis of GRIN2A gene) Panel

Epileptic encephalopathy (NGS panel for 67 genes) Panel

Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Focal Epilepsy with Speech Disorder with or without Intellectual Disability via GRIN2A Gene Sequencing with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Custom solid tumor gene sequencing panel Panel

GRIN2A Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

Epileptic Encephalopathy Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epilepsy Panel

Epileptic encephalopathy panel Panel

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Focal epilepsy panel Panel

AllNeuro panel Panel

GRIN2A Panel

Epileptic Encephalopathy Panel Panel

Idiopathic Generalized and Focal Epilepsy Panel Panel

Single gene testing GRIN2A Panel

Epilepsy Panel

Invitae Epilepsy Panel Panel

Epileptic encephalopathies Panel