[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].
OBJECTIVE
Alternating hemiplegia in childhood (AHC) is a disease characterized by recurrent episodes of hemiplegia, tonic or dystonic crisis and abnormal ocular movements. Recently, mutations in the ATP1A3 gene have been identified as the causal mechanism of AHC. The objective is to describe a series of 16 patients with clinical and genetic diagnosis of AHC.


METHODS
It is a descriptive, retrospective, multicenter study of 16 patients with clinical diagnosis of AHC in whom mutations in ATP1A3 were identified.


RESULTS
Six heterozygous, de novo mutations were found in the ATP1A3 gene. The most frequent mutation was G2401A in 8 patients (50%) followed by G2443A in 3 patients (18.75%), G2893A in 2 patients (12.50%) and C2781G, G2893C and C2411T in one patient, respectively (6.25% each).


CONCLUSIONS
In the studied population with AHC, de novo mutations were detected in 100% of patients. The most frequent mutations were D801N y la E815K, as reported in other series.
Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España. Electronic address: adrianaulate@hotmail.com.
Adriana
A
Ulate-Campos
Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España.
Carmen
C
Fons
Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España.
Jaume
J
Campistol
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España; Servicio de Genética Molecular, Hospital Universitario Sant Joan de Déu, Barcelona, España.
Loreto
L
Martorell
Unidad de Neurología Pediátrica, Servicio de Pediatría, Hospital Universitario Río Hortega, Valladolid, España.
Ramón
R
Cancho-Candela
Servicio de Neurología Pediátrica, Departamento de Pediatría, Hospital Clínico Universitario, Universidad de Santiago de Compostela, Santiago de Compostela, A Coruña, España.
Jesús
J
Eiris
Unidad de Neurología Pediátrica, Hospital Universitario Reina Sofía, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Córdoba, España.
Eduardo
E
López-Laso
Fundación Sant Joan de Déu, Barcelona, España.
Mercedes
M
Pineda
Servicio de Neurología Pediátrica, Hospital Universitario Sant Joan de Déu, Barcelona, España.
Anna
A
Sans
Servicio de Neurología Infantil, Hospital Infantil Universitario La Paz, Madrid, España.
Ramón
R
Velázquez
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D055423:Diet, Ketogenic; D020821:Dystonic Disorders / Q000178:diet therapy / Q000235:genetics*; D027342:Excitatory Amino Acid Transporter 2; D005260:Female; D050491:Glutamate Plasma Membrane Transport Proteins / Q000235:genetics; D006429:Hemiplegia / Q000178:diet therapy / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D015835:Ocular Motility Disorders / Q000178:diet therapy / Q000235:genetics*; D017354:Point Mutation; D012189:Retrospective Studies; D000254:Sodium-Potassium-Exchanging ATPase / Q000235:genetics* / Q000502:physiology; D013030:Spain; D055815:Young Adult
C488756:ATP1A3 protein, human; D027342:Excitatory Amino Acid Transporter 2; D050491:Glutamate Plasma Membrane Transport Proteins; C493397:SLC1A2 protein, human; D000254:Sodium-Potassium-Exchanging ATPase
ATP1A3 gen; Alternating hemiplegia of childhood; Bomba de sodio-potasio de trifosfato de adenosina; Gen ATP1A3; Hemiplejía alternante de la infancia; Sodium-potassium adenosine triphosphatase pump