KCNQ2 gene related symptoms and diseases

All the information presented here about the KCNQ2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, 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 KCNQ2 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Global developmental delay	Uncommon - Between 30% and 50% cases
Myoclonus	Uncommon - Between 30% and 50% cases
Intellectual disability	Uncommon - Between 30% and 50% cases
Epileptic encephalopathy	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KCNQ2 gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Abnormality of the nervous system
Hypertonia
Myokymia
Generalized tonic-clonic seizures
Hypsarrhythmia
Cognitive impairment
Muscular hypotonia
Apnea

And 55 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to KCNQ2 gene

Here you will find a list of rare diseases related to the KCNQ2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

Alternate names

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy, kcnq2-nee

Description

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

Most common symptoms of KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

Intellectual disability
Seizures
Global developmental delay
Muscular hypotonia
Feeding difficulties

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

SOURCES: ORPHANET

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 EPILEPSY

Alternate names

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns, benign familial neonatal convulsions, benign familial neonatal seizures

Description

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

Most common symptoms of BENIGN FAMILIAL NEONATAL EPILEPSY

Seizures
Cognitive impairment
Hypertonia

More info about BENIGN FAMILIAL NEONATAL 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 NEONATAL, 1; BFNS1

Description

Benign familial neonatal seizures is an autosomal dominant disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age. The disorder is distinguished from benign familial infantile seizures (BFIS1 ) by an earlier age at onset.Deprez et al. (2009) provided a review of the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. Genetic Heterogeneity of Benign Familial Neonatal SeizuresSee also BFNS2 (OMIM ), which is caused by mutation in the KCNQ3 gene (OMIM ) on chromosome 8q24, and BFNS3 (OMIM ), which has been associated with a pericentric inversion on chromosome 5. See {269720} for a possible autosomal recessive form.

Most common symptoms of SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Seizures
Global developmental delay
Motor delay
Fever
Myoclonus

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

SOURCES: OMIM

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

Alternate names

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2 Is also known as convulsions, benign familial neonatal, 2, bfnc2

Description

Benign familial neonatal seizures-2 is an autosomal dominant neurologic condition characterized by onset of clonic or tonic-clonic seizures in the first few days of life. Seizures tend to last for about a minute, may occur several times a day, and are responsive to medication. Almost all patients have full remission within the first months of life, although some rare patients may have a few seizures later in childhood. EEG, brain imaging, and psychomotor development are usually normal (summary by Fister et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial neonatal seizures, see BFNS1 (OMIM ).

Most common symptoms of SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

Seizures
Generalized tonic-clonic seizures
Focal-onset seizure
Focal impaired awareness seizure
Focal clonic seizures

More info about SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

SOURCES: OMIM

Search interest in KCNQ2

Potential gene panels for KCNQ2 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

KCNQ2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to KCNQ2 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to KCNQ2 gene

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

Alternate names

Description

Most common symptoms of KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

BENIGN FAMILIAL INFANTILE EPILEPSY

Alternate names

Description

Most common symptoms of BENIGN FAMILIAL INFANTILE EPILEPSY

BENIGN FAMILIAL NEONATAL EPILEPSY

Alternate names

Description

Most common symptoms of BENIGN FAMILIAL NEONATAL EPILEPSY

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Alternate names

Description

Most common symptoms of BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Description

Most common symptoms of SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

Alternate names

Description

Most common symptoms of SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

Search interest in KCNQ2

Potential gene panels for KCNQ2 gene

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

Epilepsy Advanced Sequencing and CNV Evaluation Panel

NGS Epilepsy/Seizure Panel Panel

Dystonia Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Movement Disorders 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

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

EpiFirst-Infantile Spasms Panel

EpilepsyNext Panel

EpiRapid Panel

EpiRapid reflex EpilepsyNext Panel

KCNQ2. MLPA testing Panel

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

KCNQ2. Complete sequencing Panel

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

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

KCNQ2. 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

Epileptic encephalopathy, early infantile 1 (sequence analysis of KCNQ2 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

Early Infantile Epileptic Encephalopathy and Benign Familial Neonatal Seizures via KCNQ2 Gene Sequencing with CNV Detection Panel

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

KCNQ2-Related Disorders Panel

Neurogenetic Disorders - panels Panel

Epileptic Encephalopathy Panel

Benign Familial Neonatal / Infantile Seizures (BFNS/BFIS) Panel

Epileptic Encephalopathy – Basic Diagnostics Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Brain Malformations / Neuronal Migration Disorders Panel

Epilepsy Panel

KCNQ2 Panel

Benign neonatal/infantile convulsions panel Panel

Epileptic encephalopathy panel Panel

Early infantile epileptic encephalopathy type 7 Panel

AllNeuro panel Panel