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FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia |
Nam Shik Kong, Hyunjoo Lee, Young-Mock Lee |
Ann Child Neurol. 2021;29(2):91-92. Published online December 9, 2020 DOI: https://doi.org/10.26815/acn.2020.00234 |
FLNA Duplication in a Female Infant with Periventricular Nodular Heterotopia Three Generations of FLNA-Associated Periventricular Nodular Heterotopia Prenatal diagnosis of periventricular nodular heterotopia in borderline ventriculomegaly using sonography and magnetic resonance imaging FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia Atypical male and female presentations of FLNA-related periventricular nodular heterotopia Periventricular nodular heterotopia and epilepsy Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication Periventricular nodular heterotopia on prenatal ultrasound and magnetic resonance imaging Integrity of the corpus callosum in patients with periventricular nodular heterotopia related epilepsy by FLNA mutation A New Missense Mutation Found in the FLNA Gene in a Family with Bilateral Periventricular Nodular Heterotopia (BPNH) Alters the Splicing Process |