SCN2A gene related symptoms and diseases

All the information presented here about the SCN2A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,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 SCN2A gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Intellectual disability	Common - Between 50% and 80% cases
Myoclonus	Common - Between 50% and 80% cases
Epileptic encephalopathy	Common - Between 50% and 80% cases
Encephalopathy	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SCN2A gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Focal-onset seizure
Global developmental delay
Atonic seizures
Febrile seizures
Ataxia
Generalized myoclonic seizures
Focal impaired awareness seizure
Fever

And 107 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SCN2A gene

Here you will find a list of rare diseases related to the SCN2A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

BENIGN FAMILIAL INFANTILE EPILEPSY

Alternate names

BENIGN FAMILIAL INFANTILE EPILEPSY Is also known as bfis, benign familial infantile seizures, bfie, benign familial infantile convulsions

Description

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

Most common symptoms of BENIGN FAMILIAL INFANTILE EPILEPSY

Seizures
Muscular hypotonia
Fatigue
Hypertonia
Myoclonus

More info about BENIGN FAMILIAL INFANTILE EPILEPSY

SOURCES: ORPHANET

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Alternate names

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis, benign neonatal-infantile epilepsy

Description

Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

Most common symptoms of BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Ataxia

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

SOURCES: ORPHANET OMIM

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Alternate names

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3 Is also known as bfic3, bfnis, convulsions, benign familial infantile, 3, seizures, benign familial neonatal-infantile

Description

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).BFIS1 has a slightly later onset than BFIS3, while benign neonatal seizures (see BFNS1, {121200}) has a slightly earlier onset.

Most common symptoms of SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Seizures
Fever
Apnea
Focal-onset seizure
Febrile seizures

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

SOURCES: OMIM

WEST SYNDROME

Alternate names

WEST SYNDROME Is also known as intellectual disability-hypsarrhythmia syndrome, infantile spasm syndrome, x-linked 1, xmesid, west syndrome, x-linked, ohtahara syndrome, x-linked, infantile spasms, infantile epileptic-dyskinetic encephalopathy, issx1

Description

West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.

Most common symptoms of WEST SYNDROME

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Ataxia

More info about WEST SYNDROME

SOURCES: OMIM ORPHANET

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Alternate names

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY Is also known as early infantile epileptic encephalopathy with suppression-bursts, ohtahara syndrome, eiee

Description

Early infantile epileptic encephalopathy (EIEE), or Ohtahara syndrome, is one of the most severe forms of age-related epileptic encephalopathies, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Seizures
Encephalopathy
Generalized myoclonic seizures
Focal-onset seizure
Epileptic encephalopathy

More info about EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

SOURCES: ORPHANET

DRAVET SYNDROME

Alternate names

DRAVET SYNDROME Is also known as smei, severe myoclonus epilepsy of infancy, ds, severe myoclonic epilepsy of infancy, dravet syndrome

Description

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

Most common symptoms of DRAVET SYNDROME

Intellectual disability
Seizures
Global developmental delay
Microcephaly
Ataxia

More info about DRAVET SYNDROME

SOURCES: OMIM ORPHANET

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Alternate names

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1, gefs+, gefs+, type 1

Description

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Intellectual disability
Seizures
Fever
Generalized tonic-clonic seizures
Generalized myoclonic seizures

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

SOURCES: OMIM ORPHANET MESH

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Description

Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Microcephaly

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

SOURCES: OMIM

Search interest in SCN2A

Potential gene panels for SCN2A 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

SCN2A gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SCN2A gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SCN2A gene

BENIGN FAMILIAL INFANTILE EPILEPSY

Alternate names

Description

Most common symptoms of BENIGN FAMILIAL INFANTILE EPILEPSY

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Alternate names

Description

Most common symptoms of BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

Alternate names

Description

Most common symptoms of SEIZURES, BENIGN FAMILIAL INFANTILE, 3; BFIS3

WEST SYNDROME

Alternate names

Description

Most common symptoms of WEST SYNDROME

EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Alternate names

Description

Most common symptoms of EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

DRAVET SYNDROME

Alternate names

Description

Most common symptoms of DRAVET SYNDROME

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

Alternate names

Description

Most common symptoms of GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Description

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Search interest in SCN2A

Potential gene panels for SCN2A 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

Syndromic Autism Panel Panel

NGS Epilepsy/Seizure Panel Panel

Childhood Epilepsy Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Non-Specific Intellectual Disability Panel Panel

Early Infantile Epileptic Encephalopathy Panel Panel

Ataxia Exome Panel Panel

Epilepsy Panel - Comprehensive Panel

Comprehensive Epilepsy Panel Panel

STAT Epilepsy Panel Panel

Infantile Epilepsy Panel Panel

Childhood-Onset Epilepsy Panel Panel

AutismNext Panel

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpiFirst-Fever Panel

EpiFirst-Infantile Spasms Panel

EpilepsyNext Panel

EpiRapid reflex EpilepsyNext Panel

IDNext Panel

SCN2A. Complete sequencing Panel

SCN1A, ARX, CDKL5, SLC2A1, STXBP1, SCN2A, KCNQ2, CHRNA4, CHRNB2, CHRNA2, PCDH19, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel

SCN2A, PRRT2, KCNQ2, KCNQ3. NextGeneDx.Complete sequencing by NGS Panel

Rapid Epilepsy Seq Analysis Panel

Rapid Epilepsy Seq + Del/Dup Panel Panel

CHOP Epilepsy Panel Panel

Rapid Epilepsy Del/Dup Panel Panel

Benign familial neonatal-infantile seizures-3 (sequence analysis of SCN2A gene) Panel

Early infantile epileptic encephalopathy (NGS panel for 26 genes) 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

Early Infantile Epilepsies and Autism via SCN2A Gene Sequencing with CNV Detection Panel

Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel

Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation Panel