Epileptic encephalopathy

Gene: ARX

Comment on mode of inheritance: The revised mode of inheritance fits with gene2phenotype of hemizygous inheritance for this disorder.

Created: 17 Dec 2015, 12:32 p.m.

Comment on mode of inheritance: Discussion with reviewer determined that females require two mutations to develop this disorder (X-linked recessive).

Created: 17 Dec 2015, 11:43 a.m.

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?

Created: 12 Nov 2015, 1:50 p.m.

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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

• Tsurusaki et al (2002) Nature 30: 441-445
• Kato et al (2004) Hum Mut 23: 147-159
• Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
• Partington et al (1998) Am J Med Genet 30: 251-262
• Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?

Created: 12 Nov 2015, 1:14 p.m.

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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

• Tsurusaki et al (2002) Nature 30: 441-445
• Kato et al (2004) Hum Mut 23: 147-159
• Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
• Partington et al (1998) Am J Med Genet 30: 251-262
• Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?

Created: 12 Nov 2015, 1:04 p.m.

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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

• Tsurusaki et al (2002) Nature 30: 441-445
• Kato et al (2004) Hum Mut 23: 147-159
• Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
• Partington et al (1998) Am J Med Genet 30: 251-262
• Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Where females manifest it would be due to x-skewing. Is this the right option?

Created: 12 Nov 2015, 12:26 p.m.

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
Epileptic encephalopathy, early infantile, 1; Lissencephaly, X-linked 2; Mental retardation, X-linked, with or without seizures, ARX-related; Partington syndrome; Proud syndrome

Publications

• Tsurusaki et al (2002) Nature 30: 441-445
• Kato et al (2004) Hum Mut 23: 147-159
• Bienvenu et al (2002) Hum Mol Genet 11(8): 981-991
• Partington et al (1998) Am J Med Genet 30: 251-262
• Kato et al (2004) Hum Mut 23: 147-159

Variants in this GENE are reported as part of current diagnostic practice