differ across the two main types of lissencephaly, Classical (Type I) and Cobble Stone (Type 2). In Classical lissencephaly the cortex becomes thickened and...
24 KB (2,536 words) - 12:56, 25 July 2024
disorders; most commonly disorders relating to varied degrees of lissencephaly. Lissencephaly is present in 1 of 85,470 births and the life span of those affected...
19 KB (2,375 words) - 13:15, 25 July 2024
characteristic sign of lissencephaly. The loss of another gene, YWHAE, in the same region of chromosome 17 increases the severity of the lissencephaly in patients...
13 KB (1,732 words) - 05:41, 11 September 2023
Norman–Roberts syndrome (redirect from Lissencephaly 2)
PE, Hourihane JO, Martin ND, Walsh CA (2000). "Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations"...
3 KB (220 words) - 10:38, 4 November 2023
Rett syndrome (primarily girls) Nijmegen breakage syndrome X-linked lissencephaly with abnormal genitalia Aicardi–Goutières syndrome Ataxia telangiectasia...
45 KB (4,208 words) - 02:45, 31 July 2024
several neuronal migration disorders; most commonly relating to lissencephaly. Lissencephaly (smooth brain) is a rare congenital brain malformation caused...
8 KB (845 words) - 17:38, 26 April 2024
Neurotubule (section Lissencephaly)
S2CID 37380445. Dobyns WB (1987). "Developmental aspects of lissencephaly and the lissencephaly syndromes". Birth Defects Original Article Series. 23 (1):...
23 KB (2,766 words) - 20:14, 3 December 2023
Reelin (section Lissencephaly)
expression are controversial. Total lack of reelin causes a form of lissencephaly. Reelin may also play a role in Alzheimer's disease, temporal lobe epilepsy...
140 KB (15,028 words) - 06:28, 5 August 2024
Gyrification (section Lissencephaly)
extent of gyrification in various species. Lissencephaly is a human disease state. For humans with lissencephaly, a large number of neurons fail to reach...
37 KB (4,555 words) - 23:21, 11 January 2024
in X-linked lissencephaly and the double cortex syndrome, and the clinical manifestations are sex-linked. In males, X-linked lissencephaly produces a smooth...
16 KB (1,896 words) - 08:42, 16 June 2024
syndromes, including agenesis of the corpus callosum, Chiari malformation, lissencephaly, and microcephaly. Although the exact cause of colpocephaly is not known...
17 KB (2,052 words) - 13:30, 25 July 2024
VLDL receptor (section Type 1 lissencephaly)
may lead to a variety of symptoms and diseases, which include type I lissencephaly, cerebellar hypoplasia, and atherosclerosis. VLDLR is a member of the...
37 KB (4,708 words) - 03:20, 26 October 2023
neurons in that area, and it is suggested to regulate fiber releasing. Lissencephaly, or 'smooth brain', is a disorder in which the brain does not properly...
23 KB (2,929 words) - 07:32, 15 June 2024
lead to cortical disorders, which includes cobblestone lissencephaly. Cobblestone lissencephaly is typically seen in three different human congenital muscular...
20 KB (2,359 words) - 06:20, 6 July 2024
inheritance; genetic counseling thus differs greatly between syndromes. Lissencephaly Microlissencephaly Schizencephaly Porencephaly Pachygyria Polymicrogyria...
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physical disabilities (such as osteogenesis imperfecta, down syndrome, lissencephaly, Sanfilippo syndrome, and muscular dystrophy), developmental disabilities...
105 KB (12,918 words) - 17:37, 16 August 2024
syndrome Lissencephaly immunodeficiency Lissencephaly syndrome type 1 Lissencephaly syndrome type 2 Lissencephaly, isolated Lissencephaly Listeria infection...
10 KB (900 words) - 15:15, 1 April 2022
Dandy–Walker malformation, hydrocephalus, microencephaly, megalencephaly, lissencephaly, polymicrogyria, holoprosencephaly, and agenesis of the corpus callosum...
94 KB (10,003 words) - 03:19, 23 August 2024
syndrome Camptomelic dysplasia Cardio-facio-cutaneous syndrome Cobblestone lissencephaly without muscular or ocular involvement Coffin-Siris syndrome Cohen-Gibson...
18 KB (1,722 words) - 07:10, 15 April 2024
mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome". Human Molecular...
13 KB (1,513 words) - 08:56, 16 June 2024
encephalopathy Inborn errors of metabolism Intraventricular hemorrhage Lissencephaly Meconium aspiration syndrome Necrotizing enterocolitis Neonatal abstinence...
20 KB (1,919 words) - 01:58, 21 May 2024
includes:[citation needed] microcephaly cortical dysplasia cerebral atrophy lissencephaly bacterial meningitis phakomatoses (e.g. tuberous sclerosis) Aicardi...
19 KB (2,282 words) - 12:06, 19 August 2024
and 9 Lethal Kniest-like syndrome Lethal multiple pterygium syndrome Lissencephaly 7 with cerebellar hypoplasia Liver disease, severe congenital Loeys-Dietz...
14 KB (1,343 words) - 23:07, 26 April 2024
Brice and Brooks. Brooks died in February 2014, aged two months, of lissencephaly and congenital nephrotic syndrome, which Hill wrote about in 2019. Hill...
66 KB (7,183 words) - 11:39, 20 August 2024
fat, lard liposuction liss(os)- smooth Greek Λισσός (Lissós), smooth lissencephaly lith(o)- stone, calculus Greek λῐ́θος (líthos) lithotripsy log(o)- speech...
118 KB (377 words) - 06:46, 10 May 2024
and Michael. Jack, the elder son, has a rare brain disorder called lissencephaly. "Bill O'Brien". Georgia Tech. 2001. Archived from the original on July...
44 KB (3,582 words) - 16:51, 19 August 2024
hypoplasia. Flattened brainstem, ventriculomegaly, pachygyria, Type II lissencephaly have been reported. At the rate between 5% and 29% holoprosencephaly...
33 KB (3,533 words) - 20:13, 14 August 2024
brain disorder that combines severe microcephaly (small head) with lissencephaly (smooth brain surface due to absent sulci and gyri). Microlissencephaly...
29 KB (2,704 words) - 14:13, 18 July 2024
Leukoencephalopathy with vanishing white matter Lewy body dementia Lissencephaly Locked-in syndrome Lou Gehrig's disease – see Amyotrophic lateral sclerosis...
13 KB (1,142 words) - 01:13, 4 July 2024
and stabilization, cause the associated neurodevelopmental diseases Lissencephaly and microlissencephaly (which literally translate to “smooth brain”)...
23 KB (2,628 words) - 22:33, 2 December 2023