Results 181 to 190 of about 6,501 (209)

Abstract TMP116: Intracranial Hemorrhage Rate in Familial Cerebral Cavernous Malformation Patients

Stroke, 2020
Background: Familial cerebral cavernous malformations (FCCM) is an autosomal dominant disease caused by mutations in three genes: CCM1 , CCM2 , or CCM3 .
A. Zafar, J. Nelson, C. McCulloch, J. Zabramski, Amy L Akers, M. Mabray, B. Hart, L. Morrison, Helen Kim   +8 more
semanticscholar   +1 more source

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

CCM1 gene mutations in families segregating cerebral cavernous malformations

Neurology, 2001
Cerebral cavernous malformations (CCM) are vascular anomalies, sometimes inherited as an autosomal dominant trait, which can cause strokes and seizures. Recently, mutations of the CCM1 gene (chromosome 7q) have been found in a subset of families. The authors found 10 new mutations by screening 29 families and five seemingly sporadic cases of CCM.
W J, Davenport, A M, Siegel, J, Dichgans, P, Drigo, I, Mammi, P, Pereda, N W, Wood, G A, Rouleau   +7 more
openaire   +2 more sources

Lingual Seizures Due to Familial Cerebral Cavernous Malformations

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

PO-37 | Trigeminal autonomic cephalalgia as the initial presentation of a cerebral cavernous malformation: a rare case report

Confinia cephalalgica (Milano)
Background: We report the case of a patient presenting with trigeminal autonomic cephalalgia (TAC)-like headache as the initial symptom of familial cerebral cavernous malformations (CCMs) associated with a pathogenic microdeletion in the KRIT1 gene. A 49-
Società Italiana per lo studio delle Cefalee (SISC)
semanticscholar   +1 more source

Familial Cerebral Cavernous malformation Syndrome: A Silent Threat

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

(PO-021) Is it Real or is it all in my Head?: A Case of Auditory Hallucinations in a Patient with Familial Cerebral Cavernous Malformation Syndrome

Journal of the Academy of Consultation-Liaison Psychiatry, 2022
N. Khan, C. Nicotra, Khalid A. Salaheldin, G. Santoro, Saad Khan   +4 more
semanticscholar   +1 more source

[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

Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish

Journal of Cerebral Blood Flow and Metabolism, 2021
Jing Lin, Jie Liang, Jun Wen
exaly