Results 31 to 40 of about 6,098 (248)

PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]

, 2019
BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY, Corsello G, Falsaperla R., Jin DK, Marino S, Marino SD, Pappalardo XG, Pavone P, Ruggieri M   +8 more
core   +1 more source

Medical treatment of dystonia [PDF]

, 2016
Therapeutic strategies in dystonia have evolved considerably in the past few decades. Three major treatment modalities include oral medications, botulinum toxin injections and surgical therapies, particularly deep brain stimulation.
Pichet Termsarasab, Steven J. Frucht, Thananan Thammongkolchai   +2 more
core   +2 more sources

Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology [PDF]

, 2020
Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN.
Al-Chalabi, Ammar, Albertí Aguilo, Maria A., Anderson, Stuart J., Barritt, Andrew W., Bella, Eleonora Dalla, Broad, Rebecca, De Boer, Eva M.J., De Souza, Paulo V.S., Elamin, Marwa, Goedee, H. Stephan, Harschnitz, Oliver, Lauria, Giuseppe, Leigh, Peter N., Nisbet, Angus, Oliveira, Acary S.B., Pardo Fernandez, Julio, Parson, Malu, Pinto, Wladimir B.V.R., Povedano Panades, Mónica, Prudlo, Johannes, Toro, Camilo, Van Den Berg, Leonard H., Van Es, Michael A., Van Iersel, Joost, Vedeler, Christian A., Veldink, Jan H., Vázquez Costa, Juan F.   +26 more
core   +3 more sources

Paroxysmal kinesigenic choreoathetosis

Yonsei Medical Journal, 1996
Paroxysmal kinesigenic choreoathetosis (PKC) is characterized by short paroxysms of focal or generalized involuntary movement induced by sudden movements, and is a well-known disease in the neurologic literature, but only 4 cases have been reported in Korea. The purpose of the presentation is to clarify the clinical features of PKC in Korea.
I S, Choi, J H, Kim, W Y, Jung
openaire   +2 more sources

Phenotypic insights into ADCY5-associated disease [PDF]

, 2016
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. We provide detailed
Carss, KJ, Chang, FC, Crimmins, D, Dale, RC, Fung, VS, Grattan-Smith, P, Grozeva, D, Hanna, BC, Hunter, M, Klein, C, Kurian, MA, Lawson, JA, Mahant, N, Max, C, Meyer, E, Morris, JG, Münchau, A, Ouvrier, RA, Pall, HS, Perez-Dueñas, B, Pryor, D, Raymond, L, Sachdev, R, Smith, M, Westenberger, A   +24 more
core   +4 more sources

FAMILIAL PAROXYSMAL KINESIGENIC CHOREOATHETOSIS [PDF]

Acta Medica Iranica, 1995
A 14-year old boy was presented with Q rare form ofmovement-induced drop attacks, which was also present in his father. 17Jis case was, therefore, labeled as familial paroxysmal kinesigenic choreoathetosis.
Mohammad Rafiie
doaj   +1 more source

ADCY5-related dyskinesia: a case report

Neurological Research and Practice, 2022
Adenylyl cyclase 5 (ADCY5) related dyskinesia is a rare disorder characterized by early-onset paroxysmal choreoathetosis, dystonia, myoclonus, or a combination of the above, which primarily involved the limbs, face, and neck.
Shih-Ying Chen, Chen-Jui Ho, Yan-Ting Lu, Chih-Hsiang Lin, Meng-Han Tsai   +4 more
doaj   +1 more source

Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series [PDF]

, 2014
INTRODUCTION: Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the
Akie Okayama, Akiko Araki, Hiroshi Azuma, Naoya Matsumoto, Satoru Takahashi   +4 more
core   +2 more sources

Paroxysmal Dyskinesias Secondary to HHV-6A Encephalitis: The First Case Report and Literature Review. [PDF]

Ann Clin Transl Neurol
ABSTRACT Paroxysmal dyskinesias encompasses a spectrum of conditions marked by intermittent involuntary movements, with paroxysmal kinesigenic dyskinesias being the most common phenotype. Central nervous system infection is a rare cause of paroxysmal dyskinesias.
Wang Z, Li H, Du X, Wang Q, Zhang Y, Wang H.   +5 more
europepmc   +2 more sources

Genetic issues in the diagnosis of dystonias [PDF]

, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core   +1 more source