Diseases of the nervous system
Episodic and paroxysmal disorders
Autosomal dominant
2q24.3
Dravet syndrome is a clinical term for early-onset epileptic encephalopathy (EIEE) characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Seizures are usually refractory to treatment. Later, patients also manifest other seizure types, including absence, myoclonic, and partial seizures.[From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607208.1 | Lebanon | Unknown | Seizure; Infantile onset Seizure; Infantile onset  | NM_001165963.3:c.4907G>A | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | |||
| 607208.2 | Lebanon | Unknown | Seizure; Infantile onset Seizure; Infantile onset | NM_001165963.3:c.2593C>T | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | |||
| 607208.3 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.4:c.428T>C | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.4 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.4:c.602+2dupT | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.5 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.4:c.2836C>T | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.6 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.4:c.4313T>C | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.7 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.4:c.4513A>T | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.8 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.3:c.4907G>A | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.9 | Lebanon | Unknown | No | Seizure; Refractory Seizure; Refractory | NM_001165963.4:c.5195C>T | Heterozygous | Autosomal, Dominant | Alame et al. 2019 | de novo mutation | |
| 607208.10 | United Arab Emirates | Male | Yes | Yes | Myoclonic seizure Myoclonic seizure | NM_001165963.4:c.5536_5539del | Heterozygous | Autosomal, Dominant | Mahfouz et al. 2020 | |
| 607208.11 | Saudi Arabia | Male | No | Yes | Delayed speech and language development;... Delayed speech and language development; Intellectual disability; Ataxia; Seizure; Cerebral atrophy | NM_001165963.4:c.715G>C | Heterozygous | De novo | Monies et al. 2019 | |
| 607208.12 | Saudi Arabia | Male | Microcephaly; Global developmental delay... Microcephaly; Global developmental delay; Myoclonic seizure | NM_001165963.4:c.677C>T | Heterozygous | Autosomal, Dominant | Monies et al. 2019 | |||
| 607208.13 | Saudi Arabia | Male | Motor delay; Delayed speech and language... Motor delay; Delayed speech and language development; Intellectual disability; Autistic behavior; Seizure | NM_001165963.4:c.2824C>G | Heterozygous | Autosomal, Dominant | Monies et al. 2019 | |||
| 607208.14 | Saudi Arabia | Male | Delayed speech and language development;... Delayed speech and language development; Seizure | NM_001165963.4:c.4497del | Heterozygous | Autosomal, Dominant | Monies et al. 2019 | |||
| 607208.15 | Saudi Arabia | Male | Delayed speech and language development;... Delayed speech and language development; Seizure; Macrocephaly; Multiple cafe-au-lait spots; Delayed speech and language development; Autistic behavior; Abnormal periventricular white matter morphology | NM_001165963.4:c.3607C>T | Heterozygous | Autosomal, Dominant | Monies et al. 2019 |