Results 31 to 40 of about 173,609 (136)

Variable phenotypes in alternating hemiplegia of childhood: A genetically proven case series [PDF]

Annals of Indian Academy of Neurology, 2021
Smilu Mohanlal, Sachin Suresh Babu, Divya Pachat   +2 more
doaj   +2 more sources

Caenorhabditis elegans models of alternating hemiplegia of childhood have dominant neuromuscular junction defects [PDF]

Disease Models & Mechanisms
Diana A. Wall, Adam M. Friedberg, Jeremy Lins, Roza Khalifa, Sienna Partipillo, Anne C. Hart   +5 more
doaj   +2 more sources

In vivo prime editing rescues alternating hemiplegia of childhood in mice [PDF]

Cell
David Liu, Linda Laux, Sylvie Forlani
exaly   +2 more sources

Weber syndrome – clinical-imaging correlations [PDF]

Romanian Journal of Neurology, 2022
An 89 years-old female patient was brought in by the family for altered mental status and left-sided motor deficit. Medical history revealed high blood pressure for which the patient was receiving anti-hypertensive treatment.
Ioan-Cristian Lupescu, Daniela Anghe, Adriana Octaviana Dulamea   +2 more
doaj   +1 more source

Heterozygous de novo mutation in the ATP1A2 gene in a patient with alternating hemiplegia of childhood

Pediatria Polska, 2023
Alternating hemiplegia of childhood (AHC) is characterized by recurrent hemiplegic episodes and paroxysmal disorders, dystonia, nystagmus, epileptic seizure, mental retardation, and intellectual impairment.
Katarzyna Wojciechowska, Agata Pikulicka, Olga Drgas, Żaneta Brudkowska, Iwona Żarnowska   +4 more
doaj   +1 more source

A case report of atypical hemiplegic migraine with nonheadache onset in a Chinese child

BMC Neurology, 2021
Background Hemiplegic migraine (HM) is an uncommon subtype of migraine with aura including motor weakness. The core symptoms of HM are headache and motor weakness.
Hui Chen, Xiaolan Sun, Ruiyan Wang, Zhaoshi Yi, Zhixin Huang, Jihua Xie, Xiongying Yu, Yong Chen, Jianmin Zhong   +8 more
doaj   +1 more source

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease [PDF]

, 2023
International audienceHere, we describe the process of development of the methodology for an international multicenter natural history study of alternating hemiplegia of childhood as a prototype disease for rare neurodevelopmental disorders.
Papadopoulou, Maria T, Vezyroglou, Aikaterini, Alexis Arzimanoglou, Liu, Beiyu, Mohamad A. Mikati, Maria T. Papadopoulou, Elisa De Grandis, Simona Balestrini, Panagiotakaki, Eleni, Carmen Fons, Hwanhee Hong, Aikaterini Vezyroglou, de Grandis, Elisa, Mikati, Mohamad, Balestrini, Simona, Fons, Carmen, Rosaria Vavassori, Arzimanoglou, Alexis, Prange, Lyndsey, Patel, Shital, Shital H. Patel, Eleni Panagiotakaki, Mikati, Mohamad A, Hong, Hwanhee, Patel, Shital H, Lyndsey Prange, Vavassori, Rosaria, Papadopoulou, Maria, Beiyu Liu   +28 more
core   +3 more sources

Frequent Fall: Seizure or Weakness? A Case Report of Alternating Hemiplegia of Childhood [PDF]

Journal of Clinical and Diagnostic Research, 2022
Alternating Hemiplegia of Childhood (AHC) is a complex disease which causes recurrent hemiplegic attacks. Although ATP1A3 gene has been identified as the cause of this neurological entity, many variants are being reported nowadays, adding to the spectrum
Sundari Subramanian, Ramya Ramanathan, Srinithi Ravikumar   +2 more
doaj   +1 more source

Topiramate in Alternating Hemiplegia of Childhood

Pediatric Neurology Briefs, 2006
A 12-year-old girl with a family history of migraine and attacks of hemiplegia was treated successfully with topiramate (TPM), in a report from the University Hospital of Messina, Italy; and Leiden University Medical Centre, The Netherlands.
J Gordon Millichap
doaj   +1 more source

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

Frontiers in Neurology, 2021
The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system.
Philippe A. Salles, Philippe A. Salles, Ignacio F. Mata, Tobias Brünger, Dennis Lal, Hubert H. Fernandez   +5 more
doaj   +1 more source