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

Nathalie Villeneuve (1) , Affef Abidi (2) , Pierre Cacciagli (2) , Cecile Mignon-Ravix (2) , Brigitte Chabrol (3) , Laurent Villard (2) , Mathieu Milh (1)

1 Epilepsie et ischémie cérébrale
2 GMGF - Génétique Médicale et Génomique Fonctionnelle
3 Service de Neurologie Pédiatrique

Domaines: Sciences du Vivant [q-bio]; Génétique; Médecine humaine et pathologie; Neurosciences [q-bio.NC]

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, 2017, 21 (5), pp.783 - 786. ⟨10.1016/j.ejpn.2017.04.001⟩. ⟨hal-01668649⟩