Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration

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Submitted on : Wednesday, December 20, 2017 - 10:53:19 AM
Last modification on : Monday, August 27, 2018 - 9:44:39 AM

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Nathalie Villeneuve, Affef Abidi, Pierre Cacciagli, Cecile Mignon-Ravix, Brigitte Chabrol, et al.. Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. European Journal of Paediatric Neurology, Elsevier, 2017, 21 (5), pp.783 - 786. ⟨10.1016/j.ejpn.2017.04.001⟩. ⟨hal-01668649⟩

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