This website provides information on patients with mutations in the KCNA1 gene, including clinical data, molecular data, management and research options.
Mutations in the KCNA1 gene can cause different syndromes:
-Early infantile epileptic encephalopathy, characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
-Episodic ataxia type 1 (EA1) is a frequent form of hereditary episodic ataxia, characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.
-Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness and spastic gait. Symptoms may be worsened by febrile illness or anesthesia.
-Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
-Paroxysmal kinesigenic dyskinesia (PKD) is a form of paroxysmal dyskinesia, characterized by recurrent brief involuntary hyperkinesias, such as choreoathetosis, ballism, athetosis or dystonia, triggered by sudden movements.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the KCNA1 gene.
Aurora Pujol, MD, PhD, Neurometabolic Diseases Laboratory, IDIBELL. Hospital Duran i Reynals, L’Hospitalet de Llobregat, Barcelona, Spain, firstname.lastname@example.org
Agusti Rodriguez-Palmero, MD, Child Neurologist, Department of Pediatrics. Germans Trias i Pujol University Hospital, Badalona (Barcelona), Spain, email@example.com