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Results: We used iobio to identify the disease-causing variant in a patient with early infantileepilepticencephalopathy with prior nondiagnostic genetic testing.
1
Reports on the use of topiramate for treatment of infantilespasms are limited.
2
Seizure types were variable, including infantilespasms and myoclonic seizures, and often prolonged.
3
Twelve patients had symptomatic infantilespasms, and two patients had cryptogenic infantilespasms.
4
This study evaluated the efficacy and safety of vigabatrin for Japanese patients with infantilespasms.
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We encountered two WBS patients presenting with infantilespasms, which is extremely rare in WBS.