Results 151 to 160 of about 827,976 (177)

Familial cerebral cavernous malformation: report of a further Italian family

Neurological Sciences, 2009
Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and may occur as a sporadic or an autosomal dominant condition.
NANNUCCI, SERENA, PESCINI, FRANCESCA, POGGESI, ANNA, L. Ciolli, M. C. Patrosso, A. Marocchi, INZITARI, DOMENICO, S. Penco, PANTONI, LEONARDO   +8 more
openaire   +3 more sources

Cavernous familial cerebral malformation

2016
Clinical History Image Findings Discussion Find Diagnosis Differential ...
openaire   +1 more source

Description of Two Families with New Mutations in Familial Cerebral Cavernous Malformations Genes

Journal of Stroke and Cerebrovascular Diseases, 2021
Cerebral cavernous malformations (CCMs) are dilated aberrant leaky capillaries located in the Central Nervous System. Familial CCM is an autosomal dominant inherited disorder related to mutations in KRIT1, Malcavernin or PDCD10. We show two unrelated families presenting familial CCM due to two new mutations in KRIT1 and PDCD10, producing truncated ...
Pablo Iruzubieta, David Campo-Caballero, Jon Equiza, Inés Albajar, Naroa Sulibarría, Raquel Sáez, Naiara Andrés, Elisabet Mondragón, Miren Zulaica, Ana de Arce, Miguel Urtasun, Adolfo López de Munain   +11 more
openaire   +2 more sources

Familial Cerebral Cavernous Malformation: Report of a Novel KRIT1 Mutation in a Portuguese Family [PDF]

Seizure: the Journal of the British Epilepsy Association, 2017
Cerebral cavernous malformations (CCMs) are vascular malformations which may occur in familial forms which have autosomal dominant inheritance. Mutations have been identified in three genes: KRIT1, MGC4607 and PDCD10. We have documented a novel mutation on KRIT1 gene, and the second to be reported in a Portuguese family. This mutation consists in a two
Miguel Grunho
exaly   +3 more sources

Familial cerebral cavernous malformations

2021
null Marc C. Mabray, MD, null Blaine L. Hart, MD, null Kwasi Addae-Mensah, BSC, MD, null Ali Salehpoor   +3 more
openaire   +1 more source

Lingual Seizures Due to Familial Cerebral Cavernous Malformations

Pediatric Neurology, 2021
Chethan K. Rao, Raj D. Sheth
openaire   +2 more sources

Cerebral cavernous malformations. Incidence and familial occurrence.

The New England journal of medicine, 1988
We studied 24 patients with histologically verified cerebral cavernous malformations, reviewing the familial occurrence and presenting signs, symptoms, and radiographic features of the disorder. Eleven patients had no evidence of a heritable trait and had negative family histories.
D, Rigamonti, M N, Hadley, B P, Drayer, P C, Johnson, K, Hoenig-Rigamonti, J T, Knight, R F, Spetzler   +6 more
openaire   +1 more source

Familial Cerebral Cavernous malformation Syndrome: A Silent Threat

2018
Clinical History Image Findings Discussion Find Diagnosis Differential ...
openaire   +1 more source

Multiple Cerebral Cavernous Malformations: Clinical Course of Confirmed, Assumed and Non-Familial Disease

European Journal of Neurology, 2022
Karsten Wrede, Laurel Rauschenbach, Dino Saban   +2 more
exaly  

[Hereditary cerebral cavernous malformations: analysis of 12 families].

Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko, 2012
Familial (hereditary) cerebral cavernous malformations (CCM) are rare disorders, they have autosomal-dominant type of inheritance. We report 12 families of non-Hispanic descent in which 54 typical CCM were discovered. In 8 families CCM were identified in 2 generations, in 2 - in 3 generations. 46 lesions were supratentorial, 8 - subtentorial.
O B, Belousova, A N, Konovalov, D N, Okishev, O B, Sazonova, A Iu, Shamov   +4 more
openaire   +1 more source