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; Affef Abidi; Pierre Cacciagli; Cecile Mignon-Ravix; Brigitte Chabrol; Laurent Villard; Mathieu Milh

doi:10.1016/j.ejpn.2017.04.001

Journal articles

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

Document type :

Journal articles

Domain :

Life Sciences [q-bio]

Life Sciences [q-bio] / Genetics

Life Sciences [q-bio] / Human health and pathology

Life Sciences [q-bio] / Neurons and Cognition [q-bio.NC]

Complete list of metadata

https://hal-amu.archives-ouvertes.fr/hal-01668649
Contributor : Laurent Villard Connect in order to contact the contributor
Submitted on : Wednesday, December 20, 2017 - 10:53:19 AM
Last modification on : Wednesday, November 3, 2021 - 6:46:35 AM

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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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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