Genetic and clinical aspects of lissencephaly

Revue neurologique
A VerloesP Gressens


The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. Multiple forms of lissencephaly have been described and their current classification is based on the associated malformations and underlying aetiology. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly. In classical lissencephaly (or type I), the cortex appears thickened, with four more or less disorganised layers rather than six normal layers. In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). The classical lissencephalies and the variant forms can be further divided into several subgroups. Four forms can be distinguished...Continue Reading


Jan 1, 1991·Neuroepidemiology·J F de Rijk-van AndelM F Niermeijer
Jul 1, 1988·American Journal of Medical Genetics·T I Ostrovskaya, G I Lazjuk
Jan 1, 1982·Brain & Development·P G BarthJ L Slooff
Jun 1, 1995·Neuropediatrics·W B Dobyns, C L Truwit
Sep 26, 2000·Human Molecular Genetics·M CaspiO Reiner
Feb 15, 2001·American Journal of Medical Genetics·H PlauchuA Verloes
Mar 23, 2001·Current Opinion in Neurology·A J BarkovichW B Dobyns
Jun 29, 2001·Mechanisms of Development·C Lambert de Rouvroit, A M Goffinet
Apr 2, 2003·Human Molecular Genetics·Mitsuhiro Kato, William B Dobyns
Nov 25, 2003·Journal of Medical Genetics·D Beltrán-Valero de BernabéH G Brunner
Feb 7, 2004·The EMBO Journal·Amos GdalyahuOrly Reiner
Mar 3, 2004·Brain Research. Molecular Brain Research·Karine PoirierJamel Chelly
May 4, 2004·Journal of Medical Genetics·D Beltran-Valero de BernabéF Muntoni
May 11, 2005·Neuron·Li-Huei Tsai, Joseph G Gleeson
May 17, 2005·Journal of Medical Genetics·J van ReeuwijkH van Bokhoven
Sep 3, 2005·Fetal and Pediatric Pathology·Fabienne AlliasFérechté Encha-Razavi
Sep 8, 2005·The Journal of Cell Biology·Jin-Wu TsaiRichard B Vallee
Sep 9, 2005·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Ying ChenJoachim Herz
Oct 11, 2005·Journal of Neuropathology and Experimental Neurology·Mark S FormanJeffrey A Golden
Mar 16, 2006·Current Opinion in Neurology·Pierre Gressens
Apr 6, 2006·Seminars in Pediatric Neurology·Paul T Martin
May 24, 2006·Neurology·A D'AmicoE Bertini
Oct 31, 2006·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Shireen S Khalaf, Ra'd Bin Tareef

❮ Previous
Next ❯


May 12, 2011·Journal of Pediatric Neurosciences·Namit Singhal, Sunil Agarwal
Oct 30, 2012·Gynécologie, obstétrique & fertilité·J QuemenerD Subtil
May 1, 2015·Fetal and Pediatric Pathology·Barthélémy ToselloCatherine Gire
Apr 2, 2008·Journal of Perinatology : Official Journal of the California Perinatal Association·T E Herman, M J Siegel
May 20, 2016·Journal of Clinical Imaging Science·Ujjawal RoyAjay Panwar
Mar 27, 2016·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L Guibaud, A Lacalm
Jan 6, 2019·Nature Reviews. Neuroscience·Cristina Llinares-Benadero, Víctor Borrell
Sep 8, 2019·Neuropharmacology·Allison KirchnerJeffrey A Loeb

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.