Cryptogenic Epileptic Syndromes Related to SCN1A
نویسندگان
چکیده
منابع مشابه
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
BACKGROUND Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in different forms of epilepsy. Mutations in this gene were observed in more than 70% of patients with severe myoclonic epilepsy of infancy (SMEI) and were also found in different types of infantile epileptic encephalopathy. OBJECTIVE ...
متن کاملThe spectrum of SCN1A-related infantile epileptic encephalopathies.
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by de...
متن کاملepileptic syndromes: from clinic to genetic.
epilepsy is one of the most common neurological disorders. studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. moreover, some chromosomal aberration including ring chromosomes will result i...
متن کاملEpileptic syndromes: From clinic to genetic
Epilepsy is one of the most common neurological disorders. Studies have demonstrated that genetic factors have a strong role in etiology of epilepsy. Mutations in genes encoding ion channels, neurotransmitters and other proteins involved in the neuronal biology have been recognized in different types of this disease. Moreover, some chromosomal aberration including ring chromosomes will result i...
متن کاملRelation of photosensitivity to epileptic syndromes.
Photosensitivity is the most common mode of seizure precipitation. It is age-related, more frequent in females, and most often found in generalised epilepsies. Little is known about its relation to individual epileptic syndromes. This study on 1062 epileptic patients who had 4007 split screen video EEG investigations revealed that the relation to generalised epilepsy is even more close than gen...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Archives of Neurology
سال: 2008
ISSN: 0003-9942
DOI: 10.1001/archneur.65.4.489