Biomaterial Database

[Alternating hemiplegia]. 2020

S L Kulikova, and S A Likhachev, and A R Kashyna

Republican Research and Clinical Center of Neurology and Neurosurgery, Minsk, Belarus.

Alternating hemiplegia, a rare neurological disease that manifests in children under the age of 18 months, is characterized by transient episodes of hemiparesis of an alternating nature in the waking period. In addition to transient hemiparesis, neurological symptoms in the form of choreoathetosis, ataxia, dystonia, autonomic dysfunction, ocular apraxia, nystagmus, seizures, dysarthria and intellectual disorders may develop. Mutation in the ATP1A3 gene is the cause of the disease in more than 75% of patients. In some cases, the use of flunarizine, adenosine triphosphate and a ketogenic diet can reduce the frequency and duration of hemiplegic attacks. The authors report a case of a patient with alternating hemiplegia caused by a heterozygous mutation in exon 8 of the ATP1A3 gene (chr19: 42489098A>T, rs606231428), resulting in an amino acid substitution at position 335 (p.Val335Asp, NM_001256214.1). The use of flunarizin in a dose of 5 mg/day significantly reduces the number and duration of seizures, while oral adenosine-5-triphosphoric acid in a dose of 20 mg/kg/day is not effective.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D005091	Exons	The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.	Mini-Exon,Exon,Mini Exon,Mini-Exons
D006429	Hemiplegia	Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body.	Monoplegia,Hemiplegia, Crossed,Hemiplegia, Flaccid,Hemiplegia, Infantile,Hemiplegia, Post-Ictal,Hemiplegia, Spastic,Hemiplegia, Transient,Crossed Hemiplegia,Crossed Hemiplegias,Flaccid Hemiplegia,Flaccid Hemiplegias,Hemiplegia, Post Ictal,Hemiplegias,Hemiplegias, Crossed,Hemiplegias, Flaccid,Hemiplegias, Infantile,Hemiplegias, Post-Ictal,Hemiplegias, Spastic,Hemiplegias, Transient,Infantile Hemiplegia,Infantile Hemiplegias,Monoplegias,Post-Ictal Hemiplegia,Post-Ictal Hemiplegias,Spastic Hemiplegia,Spastic Hemiplegias,Transient Hemiplegia,Transient Hemiplegias
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000254	Sodium-Potassium-Exchanging ATPase	An enzyme that catalyzes the active transport system of sodium and potassium ions across the cell wall. Sodium and potassium ions are closely coupled with membrane ATPase which undergoes phosphorylation and dephosphorylation, thereby providing energy for transport of these ions against concentration gradients.	ATPase, Sodium, Potassium,Adenosinetriphosphatase, Sodium, Potassium,Na(+)-K(+)-Exchanging ATPase,Na(+)-K(+)-Transporting ATPase,Potassium Pump,Sodium Pump,Sodium, Potassium ATPase,Sodium, Potassium Adenosinetriphosphatase,Sodium-Potassium Pump,Adenosine Triphosphatase, Sodium, Potassium,Na(+) K(+)-Transporting ATPase,Sodium, Potassium Adenosine Triphosphatase,ATPase Sodium, Potassium,ATPase, Sodium-Potassium-Exchanging,Adenosinetriphosphatase Sodium, Potassium,Pump, Potassium,Pump, Sodium,Pump, Sodium-Potassium,Sodium Potassium Exchanging ATPase,Sodium Potassium Pump
D055423	Diet, Ketogenic	A course of food intake that is high in FATS and low in CARBOHYDRATES. This diet provides sufficient PROTEINS for growth but insufficient amount of carbohydrates for the energy needs of the body. A ketogenic diet generates 80-90% of caloric requirements from fats and the remainder from proteins.	Ketogenic Diet,Diets, Ketogenic,Ketogenic Diets
D020821	Dystonic Disorders	Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.	Familial Dystonia,Focal Dystonia,Pseudodystonia,Writer's Cramp,Adult-Onset Dystonias,Adult-Onset Idiopathic Focal Dystonias,Adult-Onset Idiopathic Torsion Dystonias,Autosomal Dominant Familial Dystonia,Autosomal Recessive Familial Dystonia,Childhood Onset Dystonias,Dystonia Disorders,Dystonia, Hereditary,Dystonia, Primary,Dystonia, Psychogenic,Dystonia, Secondary,Dystonias, Sporadic,Familial Dystonia, Autosomal Dominant,Familial Dystonia, Autosomal Recessive,Familial Dystonia, Idiopathic,Secondary Dystonia,Adult Onset Dystonias,Adult Onset Idiopathic Focal Dystonias,Adult Onset Idiopathic Torsion Dystonias,Adult-Onset Dystonia,Childhood Onset Dystonia,Dystonia Disorder,Dystonia, Adult-Onset,Dystonia, Childhood Onset,Dystonia, Familial,Dystonia, Focal,Dystonia, Idiopathic Familial,Dystonia, Sporadic,Dystonias, Adult-Onset,Dystonias, Childhood Onset,Dystonias, Familial,Dystonias, Focal,Dystonias, Hereditary,Dystonias, Idiopathic Familial,Dystonias, Primary,Dystonias, Psychogenic,Dystonias, Secondary,Dystonic Disorder,Familial Dystonias,Familial Dystonias, Idiopathic,Focal Dystonias,Hereditary Dystonia,Hereditary Dystonias,Idiopathic Familial Dystonia,Idiopathic Familial Dystonias,Primary Dystonia,Primary Dystonias,Pseudodystonias,Psychogenic Dystonia,Psychogenic Dystonias,Secondary Dystonias,Sporadic Dystonia,Sporadic Dystonias,Writer Cramp,Writers Cramp