Affiliations: Department of Neurology, Rasool-e-Akram Hospital, Iran
University of Medical Sciences, Niayesh St, Sattar-Khan Ave, Tehran, Iran | National Institute of Genetic Engineering and
Biotechnology, Tehran, Iran | Shahid Beheshti University of Medical Sciences,
Tehran, Iran | Department of Biotechnology, Pasteur Institute of
Iran, Tehran, Iran
Note: [] Correspondence: Dr. Massoud Houshmand, Genetic
Disease~Department, National Institute of Genetic Engineering and
Biotechnology, Shahrak-e Pajoohesh, 15 km, Tehran – Karaj Highway, 14965/161,
Tehran, Iran. Tel.: +98 21 445 803 90; Fax: +98 21 445 803 99; E-mail:
[email protected]
Abstract: Dravet syndrome is a severe form of epilepsy and also is called
severe myoclonic epilepsy of infancy (SMEI). It appears during the first year
of life with frequent febrile seizures, fever related seizures, which is rare
beyond the age of 5 years. Children with SMEI typically experience poor
development of language, motor skills, hyperactivity, and difficulty in making
relationship. Thirty to eighty percent of patients with Dravet syndrome, which
is known as classical form of SMEI, suffer from defects in a gene involved in
proper function of brain cells. The patient is a 3-years-old girl presenting
with a sudden epileptic seizure. She had 2-year history of severe myoclonic
epilepsy and developmental delay that was diagnosed as Dravet syndrome. A novel
missense substitution in sodium channel alpha subunit type 1 was detected and
the novelty of substitution confirmed by molecular analysis in healthy family
members as well as control group. As an early diagnosis, the clinical screening
procedure used by pediatricians as well as a sodium channel alpha subunit type
1 mutation analysis could help to predict Dravet syndrome before 1 year of age,
so the pediatricians could be able to manage clinical work-up properly.
