IQSEC2-related developmental and epileptic encephalopathy with a Rett-like phenotype: two cases with novel variants and a review of the literature - Scorecard - MDSpire
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IQSEC2-related developmental and epileptic encephalopathy with a Rett-like phenotype: two cases with novel variants and a review of the literature
Clinical Scorecard: Developmental and Epileptic Encephalopathy Associated with IQSEC2 Variants Exhibiting Rett-like Features: A Report on Two Cases and a Literature Review
At a Glance
Category
Detail
Condition
IQSEC2-associated Rett-like syndrome
Key Mechanisms
Pathogenic variants in IQSEC2 lead to developmental and epileptic encephalopathy, affecting synaptic plasticity.
Target Population
Males with developmental delay and epilepsy, particularly those with unexplained developmental and epileptic encephalopathy.
Care Setting
Clinical genetics and neurology settings.
Key Highlights
Two brothers with a novel IQSEC2 truncating variant exhibited Rett-like symptoms.
Clinical features included developmental delay, microcephaly, and refractory epilepsy.
Male predominance noted in IQSEC2-related cases.
Genotype-phenotype correlations suggest routine IQSEC2 screening in relevant cases.
Missense and truncating mutations show clustered distribution within the IQSEC2 protein.
Mother exhibited mild intellectual disability and late-onset epilepsy.
Guideline-Based Recommendations
Diagnosis
Consider IQSEC2 screening in patients with unexplained developmental and epileptic encephalopathy.
Management
Manage seizures with antiepileptic drugs; valproate and carbamazepine showed poor control in cases. Consider levetiracetam and oxcarbazepine for partial control.
Monitoring & Follow-up
Regular assessment of developmental milestones and seizure frequency.
Risks
Potential for severe developmental impairment and refractory epilepsy.
Patient & Prescribing Data
Brothers with IQSEC2 truncating variant and Rett-like features.
Antiepileptic medications such as levetiracetam and oxcarbazepine may provide partial seizure control based on case observations.
Clinical Best Practices
Conduct thorough genetic counseling for families with affected individuals.
Monitor for metabolic disturbances in patients with prolonged fasting or poor feeding.
Ensure follow-up genetic testing for family members.
Baptist Health Foundation announced that it has received a $2 million donation from Anthony and Joyce Esernia to establish a new endowed chair at Baptist Health Miami Neuroscience Institute.
Guidance addresses office readiness, recommended equipment and medications, and team communication processes for infrequent but high-acuity emergencies.
