Results 111 to 120 of about 6,069 (199)

De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism

The Journal of Clinical Investigation
Reelin (RELN) is a secreted glycoprotein essential for cerebral cortex development. In humans, recessive RELN variants cause cortical and cerebellar malformations, while heterozygous variants were associated with epilepsy, autism, and mild cortical ...
Martina Riva, Sofia Ferreira, Kotaro Hayashi, Yoann Saillour, Vera P. Medvedeva, Takao Honda, Kanehiro Hayashi, Claire Altersitz, Shahad Albadri, Marion Rosello, Julie Dang, Malo Serafini, Frédéric Causeret, Olivia J. Henry, Charles-Joris Roux, Céline Bellesme, Elena Freri, Dragana Josifova, Elena Parrini, Renzo Guerrini, Filippo Del Bene, Kazunori Nakajima, Nadia Bahi-Buisson, Alessandra Pierani   +23 more
doaj   +1 more source

Polymicrogyria

, 2018
openaire   +2 more sources

Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association. [PDF]

Cureus
Luce JR, Tran J, Shah C.
europepmc   +1 more source

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome with aplasia cutis congenita due to PIK3R2 mutations: case report. [PDF]

Transl Pediatr
Liu Y, Zhang J, Leng J, Gou P, Cheng X.
europepmc   +1 more source

Mexiletine prevents transient heart failure in a polymicrogyria child with an ATP1A3 variant: a case report. [PDF]

Eur Heart J Case Rep
Aida M, Ozawa J, Takahashi Y, Miyatake S, Watanabe K.   +4 more
europepmc   +1 more source

Diverse Genetic Etiologies of Unilateral Polymicrogyria. [PDF]

Ann Neurol
Lai A, Neil JE, Akula SK, Amrom D, Andermann E, Bergin A, Caraballo R, Chen AY, Gaitanis J, Mochida GH, Gotoff JM, Kuchukhidze G, Marom D, ElAchkar CM, Regev M, Rodan LH, Olson H, Zhang B, Poduri A, Shao DD, Walsh CA, Yang E.   +21 more
europepmc   +1 more source

Surgical treatment of epilepsy in polymicrogyria: A subject-level meta-analysis and decision-making framework. [PDF]

Epilepsia
Bosisio L, Viglietti C, Consales A, Nobile G, Pacetti M, Tortora D, Mancardi M, Nobili L, Francione S.   +8 more
europepmc   +1 more source

Experience with new technology: Point-of-care magnetic resonance imaging in the neonatal intensive care unit. [PDF]

J Clin Imaging Sci
Keller OR, Arun A, Sanghvi A, Telkar PH, Shah CC.   +4 more
europepmc   +1 more source

Hippocampal malformation in Dravet syndrome. [PDF]

Epilepsia
Okutoyi NE, Maru V, Nauen DW.
europepmc   +1 more source

Fetal Brain Abnormalities Following Laser Surgery for Twin-to-Twin Transfusion Syndrome: Imaging Patterns and Evolution. [PDF]

Prenat Diagn
Kunpalin Y, Miller E, Larsen I, Raghuram K, Windrim C, Abbasi N, Ryan G, Mieghem TV, Shinar S.   +8 more
europepmc   +1 more source