Disease: Epilepsy telangiectasia
- <em>Cutis tricolor</em>: a literature review and report of five new cases
- 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
- A CASE OF CONGENITAL HEMORRHAGIC ANGIOMATOSIS (RENDU-OSLER'S DISEASE) ASSOCIATED WITH EPILEPSY
- A CASE OF MACROCEPHALY-CAPILLARY MALFORMATION SYNDROME PRESENTING WITH HOT WATER EPILEPSY
- A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
- Amygdala sclerosis in sudden and unexpected death in epilepsy
- Antiepileptic Treatment Strategy in Vascular Malformations
- APROPOS OF AN ANATOMO-CLINICAL CASE OF PENFIELD-WARD TYPE EPILEPTOGENIC CALCIFIC ANGIOMA; MULTIPLE CEREBRAL TELANGIECTASIA
- Arteriovenous malformations of the brain. I: Current concepts and treatment
- Ataxia associated with extrapyramidal tract diseases
- Ataxia-telangiectasia
- Ataxias in children. Clinical and genetic aspects
- ATR regulates neuronal activity by modulating presynaptic firing
- Capillary telangiectasias: clinical, radiographic, and histopathological features. Clinical article
- Causes and Consequences of Genome Instability in Psychiatric and Neurodegenerative Diseases
- Cerebral capillary telangiectasis in an infant. Coincidental Association with hypsarrhythmia
- Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey
- Cleidocranial dysostosis, hereditary haemorrhagic telangiectasia and epilepsy: a rare association
- Clinical aspects of cerebral arteriovenous malformations
- Coats' disease, Turner syndrome, and von Willebrand disease in a patient with Wildtype Norrie disease pseudoglioma
- Congenital cutis marmorata and diffuse non-calcifying corticomeningeal angiomatosis of Divry and Van Bogaert
- Contribution to the clinical findings of Pringle's disease
- Corticomeningeal angiomatosis of Divry and Van Bogaert
- Desbaric air embolism during diving: an unusual complication of Osler-Weber-Rendu disease
- Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes
- Detection of right-to-left shunt with transthoracic contrast echocardiography in patients with pulmonary hypertension
- Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations
- Diffuse cerebral angiomatosis: a case report with fatal outcome
- Epilepsy and Sleep in the ATR-X Syndrome
- Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants
- Epileptogenic cerebral vascular malformations and MRI
- Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin
- Expansion of pulmonary arteriovenous malformations after grand mal seizures and other circumstances of PAVM growth
- Frizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy
- Hair disorders and neurological impairments (neurotricosis): three new cases
- Human Ermin (hErmin), a new oligodendrocyte-specific cytoskeletal protein related to epileptic seizure
- Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy
- Hypermanganesemia, hereditary hemorrhagic telangiectasia, brain abscess: the hepatic connection
- Immunoglobulin subclass deficiency
- Immunological aspects of neurological diseases
- Intermittent horizontal saccade failure ('ocular motor apraxia') in children
- Lethal neonatal rigidity and multifocal seizure syndrome with a new mutation in BRAT1
- Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
- Management of cerebral cavernous malformations in the pediatric population: a literature review and case illustrations
- Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders
- Myoclonic cerebellar dyssynergia (Ramsay-Hunt syndrome) and cerebellar telangiectasia
- Myoclonus in childhood-onset neurogenetic disorders: The importance of early identification and treatment
- Natural history, prognosis, and lipid abnormalities of idiopathic ischemic childhood stroke
- Neuroimmunology Research. A Report from the Cuban Network of Neuroimmunology
- Neurological involvement in patients with primary immunodeficiency
- Neurosurgical Considerations of Neurocutaneous Syndromes
- Non-hereditary multiple telangiectasias of the central nervous system. Report of two clinicopathological cases
- Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A
- Osler-Weber-Rendu syndrome--pathological manifestations and autopsy considerations
- Pial Arteriovenous Fistula and Capillary Malformation-Arteriovenous Malformation Associated with RASA1 Mutation: 2 Pediatric Cases with Successful Surgical Management
- Primary immunodeficiency with early encephalopathy in two siblings. An anatomo-clinical study
- Pulmonary arteriovenous fistulas
- Radiobiological Characterization of Tuberous Sclerosis: a Delay in the Nucleo-Shuttling of ATM May Be Responsible for Radiosensitivity
- Rendu-Osler disease and epilepsy
- Rendu-Osler-Weber disease and cerebral arteriovenous malformation
- Sacral medial telangiectatic vascular nevus: a study of 43 children
- Safety and efficacy of intra-erythrocyte dexamethasone sodium phosphate in children with ataxia telangiectasia (ATTeST): a multicentre, randomised, double-blind, placebo-controlled phase 3 trial
- Safety Concerns for Sclerotherapy of Telangiectases, Reticular and Varicose Veins
- Serial cerebral angiography of late onset epilepsy
- Stereotactic microresection of small cerebral vascular malformations (SCVM)
- Supratentorial cerebral arteriovenous fistulas (AVFs) in children: review of 41 cases with 63 non choroidal single-hole AVFs
- Temporal lobe epilepsy associated with old intracerebral hemorrhage due to capillary telangiectasis in the temporal lobe: case report
- The DNA repair protein ATM as a target in autism spectrum disorder
- The epidemiology of intermittent and chronic ataxia in children in Manitoba, Canada
- The multiple facets of the SMC1A gene
- The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the <em>PIK3CA</em>-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
- Unusual eyelid involvement in tuberous sclerosis
- Unusual vascular dysplasia presenting as an intra-abdominal catastrophe
- Usefulness of Nadi's reaction in the diagnosis of the nervous system and muscles