Genetic Epilepsy

Gene: CDKL5

Green List (high evidence)

Developmental and epileptic encephalopathy-2 (DEE2) is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in impaired intellectual development and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. Phenotypic overlap with Rett syndrome.

Well established gene-disease association.

Created: 11 Nov 2021, 11:01 p.m. | Last Modified: 11 Nov 2021, 11:01 p.m.

Panel Version: 0.1390

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
Developmental and epileptic encephalopathy 2, MIM# 300672

Publications

• 19793311

Green List (high evidence)

Many PTC reported as P/LP in ClinVar.

Created: 20 Apr 2020, 6:03 a.m. | Last Modified: 20 Apr 2020, 6:03 a.m.

Panel Version: 0.2440

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, 2, MIM 300672

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

Green List (high evidence)

PMID: 27080038; >100 patients with EE and/or CDKL5 disorder
PMID: 30842224; non-MECP2 probands with Rett-like syndromes categorised into 1) typical RTT, 2) atypical RTT, 3) RTT-like phenotype. Total of 1 family with SNV in CDKL5.

Created: 20 Apr 2020, 4:29 a.m. | Last Modified: 20 Apr 2020, 4:29 a.m.

Panel Version: 0.2377

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
Rett syndrome; Rett-like phenotypes; Epileptic encephalopathy

Publications

• PMID: 27080038
• 30842224