Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations.
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Davide
D
Tonduti
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Imen
I
Dorboz
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Florence
F
Renaldo
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Julien
J
Masliah-Planchon
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Monique
M
Elmaleh-Bergès
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Hélène
H
Dalens
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France.
Diana
D
Rodriguez
From Departments of Child Neurology, Radiology, Molecular Biology, Robert Debré Hospital, AP-HP (F.R., J.M.-P., M.E.-B., O.B.-T.), Université Paris Diderot-Sorbonne Paris Cité (O.B-T) and INSERM U1141-DHU Protect (D.T, F.R, D.R., O.B-T.), Paris, France; Department of Child Neurology, Neurological Institute C. Besta Foundation IRCCS (D.T.), Milan, Italy; Department of Child Neurology Armand Trousseau Hospital, AP-HP (D.R) and Sorbonne Universités, UPMC Université Paris 06 (D.R.), Paris, France; and Clermont-Ferrand University Hospital (H.D.), Clermont-Ferrand, France. odile.boespflug-tanguy@rdb.aphp.fr.
Odile
O
Boespflug-Tanguy
D000328:Adult; D003560:Cysts / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007797:Laminin / Q000235:genetics*; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009154:Mutation; D035781:Siblings
C478221:LAMB1 protein, human; D007797:Laminin