Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy,Molecular Genetics & Genomic Medicine

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Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-08-17 , DOI: 10.1002/mgg3.1768
Sarah Duerinckx ₁ , Julie Désir ₂ , Camille Perazzolo ₁ , Cindy Badoer ₃ , Valérie Jacquemin ₁ , Julie Soblet _{3,

4} , Isabelle Maystadt ₂ , Yusuf Tunca ₅ , Bettina Blaumeiser ₆ , Berten Ceulemans ₆ , Winnie Courtens ₇ , François-Guillaume Debray ₇ , Anne Destree ₂ , Koenraad Devriendt ₈ , Anna Jansen ₉ , Kathelijn Keymolen ₉ , Damien Lederer ₂ , Bart Loeys ₆ , Marije Meuwissen ₆ , Stéphanie Moortgat ₂ , Geert Mortier ₆ , Marie-Cécile Nassogne ₁₀ , Tayeb Sekhara ₁₁ , Rudy Van Coster ₁₂ , Jenny Van Den Ende ₆ , Nathalie Van der Aa ₆ , Hilde Van Esch ₈ , Olivier Vanakker ₁₂ , Helene Verhelst ₁₂ , Catheline Vilain _{3,

4} , Sarah Weckhuysen ₆ , Sandrine Passemard ₁₃ , Alain Verloes ₁₃ , Alec Aeby ₄ , Nicolas Deconinck ₄ , Patrick Van Bogaert ₁₄ , Isabelle Pirson ₁ , Marc Abramowicz _{1,

15}

Affiliation

Institut de Recherche Interdisciplinaire en Biologie Humaine et moléculaire, Université Libre de Bruxelles, Brussels, Belgium.
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Université Libre de Bruxelles, Brussels, Belgium.
Hôpital Universitaire des Enfants Reine Fabiola (HUDERF), Université Libre de Bruxelles, Brussels, Belgium.
Department of Medical Genetics, Gülhane Faculty of Medicine & Gülhane Training and Research Hospital, University of Health Sciences Turkey, Ankara, Turkey.
University and University Hospital of Antwerp, Antwerp, Belgium.
Centre Hospitalier Universitaire de Liège, Liège, Belgium.
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Universitair Ziekenhuis Brussel (UZ Brussel), Centrum Medische Genetica, Universiteit Brussel (VUB), Brussels, Belgium.
Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.
Centre Hospitalier CHIREC, Brussels, Belgium.
Universitair Ziekenhuis Gent, Ghent, Belgium.
Department of Genetics, APHP, Robert Debré University Hospital, Paris, France.
Department of Pediatrics, Centre Hospitalier Universitaire d'Angers, France.
Department of Genetic Medicine and Development, University of Geneva, Genève, Switzerland.

Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge.

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