Results 41 to 50 of about 12,527 (181)

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, Volume 63, Issue 6, Page 1443-1474, June 2022., 2022
Abstract The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021).
Kate Riney, Alicia Bogacz, Ernest Somerville, Edouard Hirsch, Rima Nabbout, Ingrid E. Scheffer, Sameer M. Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stéphane Auvin, Leonor Cabral‐Lim, Ansuya Naidoo, Emilio Perucca, Solomon L. Moshé, Elaine C. Wirrell, Paolo Tinuper   +19 more
wiley   +1 more source

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology, Volume 9, Issue 2, Page 193-205, February 2022., 2022
Abstract Objectives Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single‐gene disorders is under‐characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP.
Maya Chopra, Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J. Shore, Brian Snyder, Scellig S. D. Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi‐Fakhari, Abbe Lai, Anne O'Donnell‐Luria, Alex R. Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C. Kruer, Mustafa Sahin, Annapurna Poduri, Siddharth Srivastava   +38 more
wiley   +1 more source

Experimental study of progressive facial hemiatrophy: effects of cervical sympathectomy in animals [PDF]

, 1991
Progressive facial hemiatrophy (Romberg's syndrome) is of unknown cause and uncertain pathogenesis. The main pathogenetic hypotheses are: sympathetic system alterations, localized scleroderma, trigeminal changes, possibly of genetic origin.
DALPAI, V, Alves, A., Resende, LAL
core   +4 more sources

Idiopathic hemifacial atrophy successfully treated with hyaluronic acid filler: About two new cases

, 2023
Journal of Cosmetic Dermatology, Volume 22, Issue 3, Page 1142-1145, March 2023.
Kouki Chaima, Mseddi Madiha, Turki Hamida   +2 more
wiley   +1 more source

Parry-Romberg syndrome with ipsilateral hemipons involvement presenting as monoplegic ataxia [PDF]

Korean Journal of Pediatrics, 2015
Parry-Romberg syndrome (PRS) is a rare, acquired disorder characterized by progressive unilateral facial atrophy of the skin, soft tissue, muscles, and underlying bony structures that may be preceded by cutaneous induration.
Yun-Jin Lee, Kee-Yang Chung, Hoon-Chul Kang, Heung Dong Kim, Joon Soo Lee   +4 more
doaj   +1 more source

Neurologic abnormalities in two patients with facial hemiatrophy and sclerosis coexisting with morphea [PDF]

, 1997
Progressive facial hemiatrophy or Parry-Romberg syndrome is a rare entity characterized by unilateral atrophy of the skin, subcutaneous tissue, and the underlying bony structures. This syndrome has many features of linear scleroderma en coup de sabre but
E. Passoni, S. Menni, A.V. Marzano
core   +1 more source

Dyke-Davidoff-Masson syndrome-A rare cause of recurrent seizures in adulthood. [PDF]

Clin Case Rep
Key Clinical Message It is important to consider DDMS as a differential diagnosis in any patient with early childhood onset of epilepsy. Early diagnosis and optimal management are key to reducing the disabling effect of DDMS.
Afrim P, Ofori E, Owusu-Danso NA, Gyamfi RA, Owusua DA, Gyabaah S, Sarfo FS.   +6 more
europepmc   +2 more sources

Parry-Romberg Syndrome: Progressive Facial Hemiatrophy: Case Report

Revista de Gestão Social e Ambiental
Introduction: Parry-Romberg syndrome is a very rare anomaly of the craniofacial region, characterized by unilateral progressive facial atrophy of unknown origin.
R. Vargas-Vera, Martha Verónica Placencia-Ibadango, Cesar William Luciano-Salazar, Alexandra María Alvarado-Álvarez, Saúl Alexander Alencastro-Placencia, Kathiuska Steffany Vargas-Silva, Ingrid Mariela Toapanta-Rea   +6 more
semanticscholar   +1 more source

Parry-romberg syndrome: about a case

The Pan African Medical Journal, 2017
A six-year-old girl presented with skin lesions on the left cheek at 5 years of age. On examination diffuse sclerosis on the left cheek was noted, hypoplasia of left half of the face and deviation of mouth and lips to left side were noted. Investigations
Hanane Oummad, Lalla Ouafae Cherkaoui
doaj   +1 more source

Progressive facial and cerebral hemiatrophy

Cleveland Clinic Journal of Medicine, 1984
A 43-year-old woman with progressive facial hemiatrophy had contralateral hemianopia and sensory loss. A computed-tomographic brain scan showed ipsilateral cerebral atrophy. The neurological and neuroradiological features of progressive facial hemiatrophy are reviewed.
openaire   +2 more sources