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Published on: May 16, 2015
Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation
Kanako Takeda1, Yusaku Miyamoto1, Hisako Yamamoto1
1Kawasaki Municipal Tama Hospital, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Japan.
Insights
Cyclin-dependent kinase-like 5 (CDKL5) deficiency causes early-onset epilepsy and severe developmental delays. Genetic analysis confirmed a CDKL5 mutation in a patient with early myoclonic encephalopathy, highlighting the need for genotype-phenotype correlation research.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- CDKL5 deficiency disorder (CDD) arises from mutations in the CDKL5 gene.
- CDD often presents in females with treatment-resistant epilepsy and profound psychomotor impairment.
Observation:
- A case study details a female infant with CDKL5 mutation presenting with early-onset epilepsy at one month.
- The patient exhibited myoclonus, opsoclonus, tonic seizures, and epileptic spasms, diagnosed as West syndrome.
- Later diagnosed with early myoclonic encephalopathy (EME) due to a persistent suppression-burst pattern on EEG.
Findings:
- Mutational analysis at age 14 identified a specific CDKL5 mutation (c.380A>G:p.His127Arg).
- The patient was diagnosed with epileptic encephalopathy consistent with CDKL5 deficiency disorder.
Implications:
- CDKL5 mutations are a potential cause of early-onset epilepsy with severe psychomotor retardation of unknown etiology.
- Further research into genotype-phenotype correlations in CDKL5 mutations is crucial for understanding clinical severity and treatment strategies.
Background:
CDKL5 deficiency is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene and clinically manifests often in females as drug-resistant intractable epilepsy and severe psychomotor retardation.
Case Report:
We report the case of a girl with a CDKL5 mutation born at 39 weeks without neonatal asphyxia. She developed epilepsy at age 1 month with myoclonus of the face and limbs, and non-rhythmic and irregular opsoclonus. She developed tonic seizures and epileptic spasms at 6 months of age and was diagnosed with symptomatic West syndrome and underwent adrenocorticotropic hormone therapy but her seizures were refractory. At the age of 4, she was introduced to our hospital and development was at 2 months of age. We diagnosed her with early myoclonic encephalopathy (EME) due to the remaining suppression-burst pattern observed on an electroencephalogram and her symptoms since onset were mainly myoclonus. At 14 years of age, mutational analysis revealed a CDKL5 mutation (c.380A > G:p.His127Arg). She was diagnosed with epileptic encephalopathy exhibiting clinical features of early myoclonic epilepsy caused by CDKL5 deficiency.
Conclusions:
Early onset epilepsy with severe psychomotor retardation without a known etiology may be caused by a mutation in CDKL5. More research investigating a genotype-phenotype correlation of CDKL5 mutations is necessary because clinical severity may be associated with the location and type of mutations.
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