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Prevalence (%) of clinical parameters based on data from 1 references describing 79 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Hemiplegic attacks | nervous | 100 % | 22842232 | 2015-11-12 | |
| Developmental delay | nervous | 99 % | 22842232 | 2015-11-12 | |
| Abnormal Eye Movements | nervous | 92 % | 22842232 | 2015-11-12 | |
| Episodes of quadriparesis | nervous | 81 % | 22842232 | 2015-11-12 | |
| Ataxia | nervous | 80 % | 22842232 | 2015-11-12 | |
| Autonomic signs | nervous | 71 % | 22842232 | 2015-11-12 | |
| Dystonia | nervous | 66 % | 22842232 | 2015-11-12 | |
| Seizures | nervous | 53 % | 22842232 | 2015-11-12 | |
| Chorea | nervous | 47 % | 22842232 | 2015-11-12 |
List of references:
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Erin L Heinzen, Kathryn J Swoboda, Yuki Hitomi, Fiorella Gurrieri, Sophie Nicole, Boukje de Vries, F Danilo Tiziano, Bertrand Fontaine, Nicole M Walley, Sinéad Heavin, Eleni Panagiotakaki, , , , Stefania Fiori, Emanuela Abiusi, Lorena Di Pietro, Matthew T Sweney, Tara M Newcomb, Louis Viollet, Chad Huff, Lynn B Jorde, Sandra P Reyna, Kelley J Murphy, Kevin V Shianna, Curtis E Gumbs, Latasha Little, Kenneth Silver, Louis J Ptáček, Joost Haan, Michel D Ferrari, Ann M Bye, Geoffrey K Herkes, Charlotte M Whitelaw, David Webb, Bryan J Lynch, Peter Uldall, Mary D King, Ingrid E Scheffer, Giovanni Neri, Alexis Arzimanoglou, Arn M J M van den Maagdenberg, Sanjay M Sisodiya, Mohamad A Mikati, David B Goldstein,
Nature genetics - Sep 2012