Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Molecular Syndromology

A. Abicht¹  B. Rautenstrauβ¹  P. Martin¹  J. Fahrbach¹  S. Koster¹ 

[1] aSéguin-Clinic for Persons with Severe Intellectual Disability, Kehl-Kork, Munich, Germany

关键词: Adult phenotype;    Ataxia;    Bradykinesia;    Dravet syndrome;    Hypomimia;    Perseveration;    Severe myoclonic epilepsy of infancy;    Spasticity;   

DOI  :  10.1159/000326746

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Dravet syndrome or severe myoclonic epilepsy in infancy (SMEI) is an epileptic syndrome characterised by refractory epilepsy and intellectual disability, typically presenting with febrile and afebrile generalised and unilateral clonic/tonic-clonic seizures in the first year of life and other types of seizures appearing later in the course of the disease. Five adult patients with SMEI and SCN1A mutations are reported, in which motor and behavioural abnormalities were outstanding symptoms. Bradykinesia, responding with latency, slow speaking with a thin voice, midface hypomimia and perseveration were distinctive features in all cases. These symptoms may be fit to define the adult phenotype of SMEI beyond seizure/epilepsy criteria. The motor and behavioural symptoms are discussed in the context of a possibly underlying frontal lobe/mesofrontal and cerebellar dysfunction.

【 授权许可】

Unknown