Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly

Gene: NPRL2

Green List (high evidence)

PMID: 33461085 Benova et al 2021 report an additional family with proband noted to have infantile-onset epilepsy and FCD. NPRL2 variant inherited from an affected father with focal epilepsy.

Created: 20 Feb 2022, 11:59 p.m. | Last Modified: 20 Feb 2022, 11:59 p.m.

Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, familial focal, with variable foci 2- MIM#617116

Publications

• PMID: 33461085

I don't know

OMIM - Focal cortical dysplasia (in some patients)

PMID: 29281825 (2017) - LOF variant identified in a patient with left frontal focal cortical dysplasia

PMID: 27173016 (2016) - cohort of focal epilepsy patients. LOF function variant in a family with focal epilepsy and focal cortical dysplasia. Segregated with two affected individuals but reduced penetrance and variable expressivity was observed.

Summary: associated with focal cortical dysplasia in two families. Recent review (PMID: 31625153) also states, mutations in NPRL2 have been linked to focal epilepsy with a less clear association with Focal Cortical Dysplasia.

Created: 26 Aug 2020, 4:05 a.m. | Last Modified: 26 Aug 2020, 4:05 a.m.

Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal epilepsy; Focal cortical dysplasia

Publications

• PMID: 29281825
• 27173016
• 31625153