Results 31 to 40 of about 165,991,670 (135)

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

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

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

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia

Molecular Genetics & Genomic Medicine, 2023
Background Pathogenic variants of ATP1A2 (OMIM ID: 182340) are usually associated with familial hemiplegic migraine type 2 (FHM‐2), alternating hemiplegia of childhood (AHC), early infantile epileptic encephalopathy (EIEE), transient cytotoxic edema, and
Xin Zhang, Shiyan Qiu, Li Yang, Yufen Li, Liyun Xu, Na Xu, Changrui Mi, Menglin Li   +7 more
doaj   +1 more source

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

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

Alternating Hemiplegia of Childhood in a Person of Malay Ethnicity with Diffusion Tensor Imaging Abnormalities [PDF]

Journal of Movement Disorders, 2019
Ai Huey Tan, Tien Lee Ong, Norlisah Ramli, Li Kuo Tan, Jia Lun Lim, Mohamad Addin Azhan, Azlina Ahmad-Annuar, Khairul Azmi Ibrahim, Zariah Abdul-Aziz, Laurie J. Ozelius, Allison Brashear, Shen-Yang Lim   +11 more
doaj   +2 more sources