Primary Health Care: Open Access

ISSN - 2167-1079

Dravet Syndrome

Citations are important for a journal to get impact factor. Impact factor is a measure reflecting the average number of citations to recent articles published in the journal. The impact of the journal is influenced by impact factor, the journals with high impact factor are considered more important than those with lower ones. Impact factor plays a major role for the particular journal. Journal with higher impact factor is considered to be more important than other ones. Impact factor can be calculated as average number of citation divided by recent cited articles published in 2 years. Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the subsequent appearance of myoclonic and/or atypical absence seizures as well as complex partial seizures. The key feature that characterizes DS is fever sensitivity, although photosensitivity and pattern-sensitivity are also often seen. The prognosis is unfavorable in most cases. Seizures become drug-resistant and persist, with many patients suffering from motor and cognitive impairment. Mutations of SCN1A, which encodes the voltage-gated sodium channel NaV1.1, are the most frequent genetic cause of this syndrome. SCN1A mutations and/or microchromosomal rearrangements involving SCN1A are detected in about 85ï½µ of patients. Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS. PCDH19 mutations might account for 5ï½µ of overall DS cases. Thirty years after its first description, DS is considered as a model of channelopathy. This survey reviews recent developments in the research literature on DS, focusing on the clinical course, as well as its genetic causes. The typical form of severe myoclonic epilepsy in infancy combines: normal psychomotor development prior to epilepsy, convulsive crises which are often febrile and long lasting at about six months of age, even earlier. These can evolve to grand mal states and focal convulsions alternating from one side to the other, frequently with a post-ictal unilateral motor deficiency. Polymorphic non-febrile crises then follow which are often associated with myoclonia and secondary intellectual deficiency predominantly affecting language, and ataxia. Neither EEG nor MRI shows any specific abnormalities. This syndrome is mostly associated with a mutation, usually de novo, of the SCN1A gene that encodes a sodium channel. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy that begins in the first year of life with frequent and/or prolonged seizures. Previously known as Severe Myoclonic Epilepsy of Infancy (SMEI), it affects 1:15,700 individuals, 80% of whom have a mutation in their SCN1A gene [1]. While seizures persist, other comorbidities such as developmental delay and abnormal EEGs are often not evident until the second or third year of life.

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