Results 151 to 160 of about 1,864 (178)

Clinical features of cerebral cavernous malformations patients with KRIT1 mutations

Annals of Neurology, 2003
AbstractCerebral Cavernous Malformations (CCM/OMIM 604214) are vascular malformations causing seizures and cerebral hemorrhages. They occur as a sporadic and autosomal dominant condition, the latter being characterized by the presence of multiple CCM lesions.
Christian, Denier, Pierre, Labauge, Laurent, Brunereau, Florence, Cavé-Riant, Florence, Marchelli, Minh, Arnoult, Michaelle, Cecillon, Jacqueline, Maciazek, Anne, Joutel, Elisabeth, Tournier-Lasserve   +9 more
openaire   +2 more sources

Cerebral cavernous malformations

Neurology, 2002
To find mutations in the recently identified additional exons of the Krit1 gene that causes CCM1, a disease characterized by the formation of cerebral cavernous malformations (CCM). To determine the relative frequency with which Krit1 mutations cause CCM as well as recharacterize the mutations reported in the literature.Twenty-seven families and 11 ...
D J, Verlaan, W J, Davenport, H, Stefan, U, Sure, A M, Siegel, G A, Rouleau   +5 more
openaire   +2 more sources

Identification of the KRIT1 Protein by LexA-Based Yeast Two-Hybrid System

2020
Cerebral cavernous malformation (CCM) is a vascular malformation of the central nervous system that is associated with leaky capillaries, and a predisposition to serious clinical conditions including intracerebral hemorrhage and seizures. Germline or sporadic mutations in the CCM1/KRIT1 gene are responsible for the majority of cases of CCM.
Serebriiskii I.G., Elmekawy M., Golemis E.A.   +2 more
openaire   +2 more sources

Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas

Nature Genetics, 1999
Cavernous angiomas are vascular malformations mostly located in the central nervous system and characterized by enlarged capillary cavities without intervening brain parenchyma. Clinical symptoms include seizures, haemorrhage and focal neurological deficits. Cavernous angiomas prevalence is close to 0.5% in the general population. They may be inherited
S, Laberge-le Couteulx, H H, Jung, P, Labauge, J P, Houtteville, C, Lescoat, M, Cecillon, E, Marechal, A, Joutel, J F, Bach, E, Tournier-Lasserve   +9 more
openaire   +2 more sources

Identification of two novel mutations and of a novel critical region in the KRIT1 gene

Neurogenetics, 2006
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to hemorrhagic strokes and focal neurological signs. Mutations in three genes (KRIT1, MGC4607, and PDCD10) have been associated with CCMs.
V. Guarnieri, L. Muscarella, R. Amaroso, Quattrone, Alessandro, M. Abate, M. Coco, D. Catapano, V. D'Angelo, L. Zelante, L. D'Agruma   +9 more
openaire   +3 more sources

A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations

Neurogenetics, 2023
Chunwang Li, Penghui Liu, Weilin Huang, Haojie Wang, K. Ma, Lingyun Zhuo, Yaqing Kang, Qiu He, Yuan-xiang Lin, D. Kang, Fuxin Lin   +10 more
semanticscholar   +1 more source

Status epilepsy in CCM with KRIT1 gene change

European Journal of Paediatric Neurology, 2014
Emily V. Craft, Pradeep C. Vasudevan
openaire   +2 more sources

A rare cause of persistent hiccups: familial cerebral cavernous malformations associated with mutation of the KRIT1 gene.

Acta Neurologica Belgica
Mert Altıntaş, Göksel Vatansever, Seda Kaynak Şahap, İrem Hartuç Çevik, M. Yıldırım   +4 more
semanticscholar   +1 more source

Multiple cerebral cavernomata - KRIT1 mutation

2022
openaire   +1 more source

Cutaneous venous malformation due to krit1 mutation: a case report

2012
Cavernous malformations (CMs) are vascular anomalies of the nervous system mostly located in the brain. Cerebral cavernous malformations (CCM) can occur sporadically or as an autosomal dominant condition, with incomplete penetrance and variable clinical expression.
LULLI, Patrizia, GRIPPAUDO, Francesca Romana, PIANE, Maria, L. Alesi, I. De Santis, M. Amoroso, S. Penco, SANTANELLI DI POMPEO, Fabio, CHESSA, Luciana   +8 more
openaire   +1 more source