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Deepika vegiraju: Created page with "== '''Summary''' == KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child's life (neonatal period). The groups is made up of..."

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== '''Summary''' ==
KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child's life (neonatal period). The groups is made up of various different diseases whose signs and symptoms vary. The conditions range from the less severe form KCNQ2-related [[benign familial neonatal epilepsy]] '''(KCNQ2-BFNE)''' to the more severe form KCNQ2-related epileptic encephalopathy '''(KCNQ2-NEE)'''.

== '''Cause''' ==
These disorders are caused by mutations in the '''KCNQ2 gene'''.

== '''Inheritance''' ==
[[File:Autosomal dominant - en.svg|thumb|right|Autosomal dominant pattern, a 50/50 chance.]]
Inheritance is [[autosomal dominant]].

== '''Signs and symptoms''' ==
'''KCNQ2-BFNE '''is characterized by [[seizures]] that start in otherwise healthy infants around day 3 of life and usually go away within 1 to 4 months. KCNQ2-NEE is characterized by [[epilepsy]] and profound [[intellectual disability]] and [[seizures]] that begin in the first weeks of life and typically show little response to treatment.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
'''100% of people have these symptoms'''
* [[Intellectual disability]](Mental deficiency)

'''80%-99% of people have these symptoms'''
* [[EEG]] with burst suppression
* [[Epileptic encephalopathy]]
* Generalized [[tonic seizure]]

'''30%-79% of people have these symptoms'''
* Abnormal [[globus pallidus]] morphology
* [[Apnea]]
* Cerebral [[edema]](Swelling of brain)
* [[Dystonia]]
* Epileptic [[spasm]]
* Facial [[erythema]](Blushed cheeks)
* Feeding difficulties(Feeding problems)
* Inability to walk
* Muscular [[hypotonia]](Low or weak muscle tone)
* [[Pallor]]
* Poor gross motor coordination
* Profound global [[developmental delay]]

'''5%-29% of people have these symptoms'''
* Cerebral atrophy(Degeneration of cerebrum)
* Febrile seizure (within the age range of 3 months to 6 years)(Fever induced seizures)
* Global [[developmental delay]]
* [[Hypoplasia]] of the [[corpus callosum]](Underdevelopment of part of brain called corpus callosum)
* [[Hypsarrhythmia]]
* Motor delay

== '''Diagnosis''' ==
The diagnosis is based on the presence of characteristic clinical findings and heterozygous pathogenic variants in KCNQ2 , which codes for voltage-gated potassium channel subunits.<ref>Miceli F, Soldovieri MV, Joshi N, et al. KCNQ2-Related Disorders. 2010 Apr 27 [Updated 2018 Sep 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK32534/
</ref>[https://www.ncbi.nlm.nih.gov/books/NBK32534//].

In '''KCNQ2-BFNE''', all laboratory tests are normal, including brain [[CT]] and [[MRI]].
In '''KCNQ2-NEE''', brain MRI frequently shows bilateral or asymmetric hyperintensities in the [[basal ganglia]], and sometimes in the [[thalamus]]; these may resolve over time.
Other common findings are small frontal lobes with increased adjacent extra-axial spaces, thin [[corpus callosum]], and decreased posterior white matter volume.

== '''Treatment''' ==
'''KCNQ2-BFNE.'''
* The majority of children can be kept [[seizure]]-free by using [[phenobarbital]] (20 mg/kg as loading dose and 5 mg/kg/day as maintenance dose).
* In some affected individuals, seizures require other [[Antiepileptic drug|antiepileptic drugs]] (AEDs).
'''KCNQ2-NEE.'''
Children have multiple daily [[seizures]] resistant at onset to [[phenobarbital]] and other common old- and new-generation AEDs, alone or in combination. Sodium channel blockers like [[phenytoin]] (PHT) or [[carbamazepine]] (CBZ) were shown to control [[seizures]] in several patients and should be considered first-line treatment.<ref>Miceli F, Soldovieri MV, Joshi N, et al. KCNQ2-Related Disorders. 2010 Apr 27 [Updated 2018 Sep 27]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK32534/
</ref>[https://www.ncbi.nlm.nih.gov/books/NBK32534//].

== '''References''' ==
<references />

{{rarediseases}}
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KCNQ2-Related Disorders - Revision history

Prab: CSV import

Deepika vegiraju: Created page with "== '''Summary''' == KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child's life (neonatal period). The groups is made up of..."