Results 101 to 110 of about 11,022 (215)

Lissencephaly [PDF]

, 2020
  +5 more sources

Total callosotomy ameliorates epileptic activity and improves cognitive function in a patient with Miller-Dieker syndrome

Epilepsy & Behavior Reports
Miller-Dieker syndrome (MDS) is characterized by facial abnormalities and lissencephaly and is caused by a microdeletion in the region containing the LIS1 gene at chromosome 17p13.3.
Masataka Fukuoka, Ichiro Kuki, Yuka Hattori, Hitomi Tsuji, Asako Horino, Megumi Nukui, Takeshi Inoue, Shin Okazaki, Noritsugu Kunihiro, Takehiro Uda   +9 more
doaj   +1 more source

Walker-Warburg syndrome: report of two cases

Arquivos de Neuro-Psiquiatria, 1999
The purpose of this study is to describe two infants that were diagnosed with Walker-Warburg syndrome (WWS), a rare form of congenital muscular dystrophy (CMD).They were studied in their clinical, laboratory, and neuroradiologic features.
VASCONCELOS MARCIO M., GUEDES CÁSSIA R., DOMINGUES ROMEU C., VIANNA RAUL N. G., SOTERO MARCIO, VIEIRA MÔNICA M.   +5 more
doaj  

PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus

Scientific Reports, 2017
Hemizygous mutations in the human gene encoding platelet-activating factor acetylhydrolase IB subunit alpha (Pafah1b1), also called Lissencephaly-1, can cause classical lissencephaly, a severe malformation of cortical development.
Matthew T. Dinday, Kelly M. Girskis, Sunyoung Lee, Scott C. Baraban, Robert F. Hunt   +4 more
doaj   +1 more source

Chromosomal map of human brain malformations [PDF]

, 2018
The etiology of most central nervous system (CNS) malformations remains unknown. We have utilized the fact that autosomal chromosome aberrations are commonly associated with CNS malformations to identify new causative gene loci.
Lurie, Iosif, Schinzel, Albert, Tyshchenko, Nataliya   +2 more
core  

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

, 2017
Ackroyd, Ackroyd, Assadi, Barone, Beltran-Valero de Bernabe, Bielle, Booler, Borrell, Bouchet, Brockington, Buysse, Carss, Copp, Devisme, Dobyns, Ervasti, Gee, Halfter, Hartfuss, Hirotsune, Hong, Hu, Hu, Kranz, Lefeber, Lefeber, Longman, Manzini, Meyer, Montagnani, Moore, Moore, Myshrall, Radner, Reiner, Rice, Roscioli, Satz, Shaheen, Siegenthaler, Stevens, Sugita, Takiguchi-Hayashi, Toda, van Reeuwijk, Vuillaumier-Barrot, Willer, Yang, Yeo, Yoshida, Yoshida-Moriguchi, Yurchenco   +51 more
core   +2 more sources

Microcephaly [PDF]

, 2009
This issue of eMedRef provides information to clinicians on the pathophysiology, diagnosis, and therapeutics of ...
Michels, Thomas C., Morris, Monica, Myers, Tammy   +2 more
core  

MALFORMATIONS OF CENTRAL NERVOUS SYSTEM: GENERAL ISSUES [PDF]

, 2013
Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome.
Alongi,A, Ballacchino,A, CORSELLO, Giovanni, Domianello,D, Pipitone,L, PIRO, Ettore, Provenzano,S, Sanfilippo,C, Schierz,IAM, Serra,G   +9 more
core  

Infantile epileptic spasms syndrome in a child with lissencephaly associated with de novo PAFAH1B1 variant and coincidental CMV infection

Epilepsy & Behavior Reports
Type 1 lissencephaly is a brain malformation characterized by agyria and pachygyria and is known to be caused by congenital infections and genetic variations.
Nga Ying Eng, Duyu A. Nie
doaj   +1 more source

Cytomegalovirus infection with lissencephaly

Indian Journal of Pathology and Microbiology, 2008
Lissencephaly is a malformation of the brain in which the brain surface is smooth, rather than convoluted. Among the various causes of lissencephaly, infection by a virus during pregnancy plays an important role.
Joseph Leena, Pushpalatha, Kuruvilla Sarah   +2 more
doaj