Genetic Epilepsy

Gene: NEXMIF

Green List (high evidence)

Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation. OMIM describes that a phenotype manifests depending on X-inactivation skewing No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher) Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.

Created: 18 Jun 2020, 10:33 a.m. | Last Modified: 18 Jun 2020, 10:33 a.m.

Panel Version: 0.727

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mental retardation, X-linked 98, MIM# 300912

Publications

• 27358180

Green List (high evidence)

Females have been described as both asymptomatic carriers or affected. Given only PTCs have been reported, there is no genotype-phenotype correlation.
OMIM describes that a phenotype manifests depending on X-inactivation skewing

No reported pathogenic missense to date except for the one LP hemizygous in DDD that is maternally inherited (Decipher)

Compared with its hemizygous male counterpart, the heterozygous female disease has less severe intellectual disability, but is more often associated with a severe and intractable myoclonic epilepsy.

Created: 18 Jun 2020, 5:29 a.m. | Last Modified: 18 Jun 2020, 5:29 a.m.

Panel Version: 0.3111

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Mental retardation, X-linked 98 300912

Publications

• PMID: 27358180