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Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
Author(s) -
Tran Linh,
Richards Jason,
McDonald Marie,
McConkieRosell Allyn,
Stong Nicholas,
Jasien Joan,
Shashi Vandana,
Mikati Mohamad A.
Publication year - 2020
Publication title -
epileptic disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.673
H-Index - 53
eISSN - 1950-6945
pISSN - 1294-9361
DOI - 10.1684/epd.2020.1127
Subject(s) - dystonia , status epilepticus , parkinsonism , pediatrics , encephalopathy , medicine , epilepsy , age of onset , psychiatry , disease
Mutations in ATP1A3 have been found to cause rapid‐onset dystonia Parkinsonism, alternating hemiplegia of childhood, epileptic encephalopathy and other syndromes. We report a four‐year, nine‐month‐old boy with episodes of frequent and recurrent status epilepticus, who first began having generalized tonic‐clonic seizures at four months of age. Development was normal until the age of four months, and markedly slowed down after the onset of seizures. Between the age of seven months and two and a half years, the patient had recurrent attacks of unilateral and bilateral hemiplegia. At the age of 21 months, after a febrile illness with status epilepticus, he regressed and developed continuous severe dystonia and bradykinesia with superimposed intermittent painful dystonic spasms. Extensive neurological and genetic workup revealed a de novo p.V589F ATP1A3 mutation (NM_152296.5:c.1765G>T, NC_000019.9:g.42482344C>A). This is a novel mutation associated with a novel phenotype that shares features with epileptic encephalopathy, alternating hemiplegia of childhood, and rapid‐onset dystonia Parkinsonism.