Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia

Pathogenic FLNA variants can be identified in patients with seizures accompanied by periventricular nodular heterotopia (PVNH). It is unusual to find FLNA aberrations in epileptic patients without PVNH on brain imaging. We report a boy with cryptogenic West syndrome followed by refractory seizures a...

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Bibliografische gegevens
Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Hiromoto, Yoshitaka, Azuma, Yoshiteru, Suzuki, Yuichi, Hoshina, Megumi, Uchiyama, Yuri, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Kato, Mitsuhiro, Matsumoto, Naomichi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2020
Onderwerpen:
Data Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7713383/
https://ncbi.nlm.nih.gov/pubmed/33298907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00131-9
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