Cerebral Palsy

Gene: KCNQ2

Green List (high evidence)

Sufficient phenotypic overlap with CP, given some individuals reported as having significant motor impairment, including spastic tetraplegia.

Created: 27 Sep 2021, 4:15 a.m. | Last Modified: 27 Sep 2021, 4:15 a.m.

Panel Version: 0.154

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 7 - #613720

I don't know

Well-validated association with early-onset epileptic encephalopathy (ClinGen) and neonatal seizures.


In addition, KCNQ2 pathogenic variants reported in multiple individuals with intractable neonatal seizures and associated intellectual disability, developmental delay and motor impairment (axial hypotonia and/or spastic quadriplegia) - (PMID 22275249)

x2 case reports of associated CP - 6 year old M with neonatal seizures and a CP-like syndrome. KCNQ2 exon 7 partial duplication impairing gene function (ClinVar ID 617505) - (PMID 32585800 and 33557955) and 2 year old F with perinatal encephalopathy, severe tetraparesis and cerebral visual impairment (PMID 28655139). Neonatal epileptic encephalopathy primary presentation in both cases.

On Expert CP Gene List.
Sources: Expert list, Literature

Created: 27 Sep 2021, 2:26 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 7 - #613720; Myokymia - #121200; Seizures, benign neonatal, 1 - #121200

Publications

• 33557955
• 32585800
• 22275249
• 28655139