[Developmental and epileptic encephalopathy 33 caused by EEF1A2 gene mutation: a case report]

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Severe global developmental delay (GDD) and refractory epilepsy in infancy present significant diagnostic challenges.
• Autosomal dominant developmental and epileptic encephalopathy 33 is a rare genetic disorder.
• Early identification of genetic causes is crucial for appropriate management.

Purpose of the Study:

• To report a case of autosomal dominant developmental and epileptic encephalopathy 33 caused by an EEF1A2 gene mutation.
• To highlight the importance of genetic testing in infants with unexplained severe GDD and refractory epilepsy.
• To raise awareness among clinicians regarding EEF1A2 mutations.

Main Methods:

• Clinical presentation of a 7-month-old boy with severe GDD and epilepsy.
• Comprehensive genetic testing, including whole exome sequencing or gene panels.
• Identification of a de novo heterozygous missense mutation c.364G>A(p.E122K) in the EEF1A2 gene.

Main Results:

• The patient exhibited severe global developmental delay, refractory epilepsy, hypotonia, nystagmus, and characteristic craniofacial features.
• Genetic analysis confirmed a pathogenic de novo mutation in the EEF1A2 gene.
• The diagnosis of autosomal dominant developmental and epileptic encephalopathy 33 was established.

Conclusions:

• EEF1A2 gene mutations are a significant cause of severe, early-onset developmental and epileptic encephalopathy.
• Genetic testing for EEF1A2 mutations should be considered in infants with unexplained severe GDD, refractory epilepsy, hypotonia, and craniofacial anomalies.
• This case underscores the utility of genetic diagnostics in identifying rare neurological disorders.