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  • Title: Hypochondroplasia and temporal lobe epilepsy - A series of 4 cases.
    Author: Ahmadi M, Herting A, Mueffelmann B, Woermann FG, Abou Jamra R, Bien CG, Polster T, Brandt C.
    Journal: Epilepsy Behav; 2022 Jan; 126():108479. PubMed ID: 34922328.
    Abstract:
    Hypochondroplasia is a skeletal dysplasia syndrome with an autosomal dominant inheritance. It may be associated with temporal lobe epilepsy. We present a series of four patients (two female, two male) with hypochondroplasia who presented at our center with drug refractory epilepsy. Clinical details and EEG and MRI findings led to a diagnosis of temporal lobe epilepsy in all four cases. The MRI findings indicate the epilepsy in hypochondroplasia may be associated with bilateral temporal lobe dysgenesis.
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