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Mesial temporal sclerosis in a cohort of children with SCN1A gene mutation
Katherine Van Poppel1, Zoltan Patay, Donna Roberts
1Le Bonheur Comprehensive Epilepsy Program, Memphis, TN, USA.
Insights
Mesial temporal sclerosis is common in children with SCN1A gene mutations, often without prolonged febrile seizures. This finding suggests a broader association than previously recognized.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Mesial temporal sclerosis (MTS) is rarely seen in childhood.
- MTS has been linked to febrile status epilepticus.
- SCN1A gene mutations are associated with various epilepsy syndromes, often involving prolonged febrile seizures.
Purpose of the Study:
- To investigate the prevalence of mesial temporal sclerosis in pediatric patients with SCN1A gene mutations.
- To determine if MTS occurs in SCN1A mutation carriers without a history of prolonged febrile seizures.
Main Methods:
- Retrospective review of magnetic resonance imaging (MRI) findings.
- Analysis of 20 pediatric patients with identified SCN1A mutations between 2005 and 2010.
Main Results:
- Six patients (30%) showed definite mesial temporal sclerosis, with two having bilateral involvement.
- An additional four patients (20%) had possible mesial temporal sclerosis.
- Overall, 50% of patients exhibited findings consistent with definite or possible MTS, many lacking a history of prolonged febrile seizures.
Conclusions:
- Mesial temporal sclerosis is a frequent finding in children with SCN1A mutations.
- The presence of MTS in this cohort suggests a significant association independent of prolonged febrile seizures.
- While many affected children may have Dravet syndrome, the findings indicate MTS can occur in SCN1A mutation carriers without it.
Abstract:
Mesial temporal sclerosis is uncommon in childhood but has been associated with febrile status epilepticus. SCN1A gene mutations are linked to multiple epilepsy syndromes with patients frequently presenting with prolonged febrile seizures. After observing mesial temporal sclerosis in a child with SCN1A gene mutation, we retrospectively reviewed magnetic resonance imaging (MRI) findings in all patients with SCN1A gene mutation identified between 2005 and 2010. We identified 20 patients with SCN1A mutations. Six patients had evidence of definite mesial temporal sclerosis with 2 patients having bilateral abnormalities. Another 4 patients were defined as having possible mesial temporal sclerosis. This patient group revealed that 50% had findings consistent with definite or possible mesial temporal sclerosis and many did not have a history of prolonged febrile seizures. We conclude that mesial temporal sclerosis is a common finding in children with SCN1A mutations. Many of these children will have Dravet syndrome but not all.
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