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[ARX--one gene--many phenotypes].
Lisik M, Sieroń AL. Lisik M, et al. Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Neurol Neurochir Pol. 2008. PMID: 18975239 Review. Polish.
Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly with abnormal genitalia (XLAG), agenesis of corpus callosum with abnormal genitalia (ACC-AG), Partington syndrom …
Described disorders caused by mutations in the ARX gene include: hydrocephaly with abnormal genitalia (HYD-AG), lissencephaly …
Diffuse malformations of cortical development.
Bahi-Buisson N, Guerrini R. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:653-65. doi: 10.1016/B978-0-444-52891-9.00068-3. Handb Clin Neurol. 2013. PMID: 23622213 Review.
Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. ...DCX mutations usually cause anteriorly pre …
Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia …
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia.
Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. Dobyns WB, et al. Am J Med Genet. 1999 Oct 8;86(4):331-7. Am J Med Genet. 1999. PMID: 10494089 Review.
Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset epilepsy, hypothalam …
Recently, we have recognized 5 children from four unrelated families with an almost identical disorder comprising lissencephaly with a poste …
X-linked malformations of cortical development.
Leventer RJ, Mills PL, Dobyns WB. Leventer RJ, et al. Am J Med Genet. 2000 Fall;97(3):213-20. doi: 10.1002/1096-8628(200023)97:3<213::AID-AJMG1039>3.0.CO;2-W. Am J Med Genet. 2000. PMID: 11449490 Review.
Disorders of the development of the human cortex are recognized as significant causes of mental retardation, epilepsy, and congenital neurologic deficits. These malformations may be restricted to the brain or may be one component of a generalized malformation syndrome. ... …
Disorders of the development of the human cortex are recognized as significant causes of mental retardation, epilepsy, and congenital …
Genetic malformations of cortical development.
Guerrini R, Marini C. Guerrini R, et al. Exp Brain Res. 2006 Aug;173(2):322-33. doi: 10.1007/s00221-006-0501-z. Epub 2006 May 25. Exp Brain Res. 2006. PMID: 16724181 Review.
A rare recessive form of PNH due ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay and early seizures. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) are disorders of neuronal migration and represent a malforma …
A rare recessive form of PNH due ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay and early seizures …
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. Gras M, et al. J Med Genet. 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. J Med Genet. 2024. PMID: 37879892 Review.
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is i …
While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with ab …
Neuronal migration disorders, genetics, and epileptogenesis.
Guerrini R, Filippi T. Guerrini R, et al. J Child Neurol. 2005 Apr;20(4):287-99. doi: 10.1177/08830738050200040401. J Child Neurol. 2005. PMID: 15921228 Review.
Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in male pati …
Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical …
The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
Sherr EH. Sherr EH. Curr Opin Pediatr. 2003 Dec;15(6):567-71. doi: 10.1097/00008480-200312000-00004. Curr Opin Pediatr. 2003. PMID: 14631200 Review.
Patients with these aforementioned diseases and ARX mutations were not reported to have brain imaging abnormalities. In contrast, mutations in ARX mutations have also been found in X-linked lissencephaly with abnormal genitalia, which typ …
Patients with these aforementioned diseases and ARX mutations were not reported to have brain imaging abnormalities. In contrast, mut …
Ambiguous Genitalia Associated with an Extremely Rare Syndrome: A Case Report of XLAG Syndrome and Review of the Literature.
Gupta B, Ramteke P, Paul VK, Kumar T, DAS P. Gupta B, et al. Turk Patoloji Derg. 2019;35(2):162-165. doi: 10.5146/tjpath.2017.01391. Turk Patoloji Derg. 2019. PMID: 28272686 Free article. Review. English.
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprises the XLAG syndrome and only 15 cases have been reported in literature. ...
X-linked lissencephaly, absent corpus callosum, and epilepsy of neonatal onset with ambiguous genitalia comprise …
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.
Guilherme R, Baumann C, Garel C, Huten Y, Oury JF, Delezoide AL. Guilherme R, et al. Am J Med Genet A. 2008 Jul 15;146A(14):1775-80. doi: 10.1002/ajmg.a.32380. Am J Med Genet A. 2008. PMID: 18553517 Review.
We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with prev …
We report on two male sib fetuses with humero-radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corp …
11 results