Typical EEG pattern of MMPSI is presented in a series of electroencephalograms (Figures 1–7). [intechopen.com]

Health Conditions Related to Genetic Changes DOORS syndrome At least 10 mutations in the TBC1D24 gene have been identified in people with DOORS syndrome, a disorder involving multiple abnormalities that are present from birth (congenital). [medlineplus.gov]

[Epub ahead of print] PUBMED Residual signs of dopa-responsive dystonia with GCH1 mutation following levodopa treatment are uncommon in Korean patients. [neurorecursos.com]

Treatment MMPSI is a drug-resistant epilepsy form with serious prognosis. Treatment approaches are still developing. Baseline, old, and new antiepileptic drugs in various combinations, as well as corticosteroids, are ineffective [1, 2, 3]. [intechopen.com]

The jerks stopped with sleep without any treatment and reoccurred with waking. [frontiersin.org]

We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsiveness, and physical examination. In silico evaluation revealed 7 different highly conserved motifs, with the most common pathogenic mutation located in the first. [pubmed.ncbi.nlm.nih.gov]

MMPSI is a drug-resistant epilepsy with serious prognosis. [intechopen.com]

Etiology In most MMPSI cases, etiology remains unknown; familial cases are rare. In observation by Dulac, relatives in 3 of 24 patients had febrile convulsions, and 4 patients had family history of epilepsy [3]. [intechopen.com]

Cited by Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice. Mahdiannasser M, Rashidi-Nezhad A, Badv RS, Akrami SM. Mahdiannasser M, et al. [pubmed.ncbi.nlm.nih.gov]

Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention. Lancet Neurol (2016) 15:1075–88. doi:10.1016/S1474-4422(16)30158-2 CrossRef Full Text | Google Scholar 7. [frontiersin.org]

PUBMED Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. [neurorecursos.com]

Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention. Lancet Neurol (2016) 15:1075–88. doi:10.1016/S1474-4422(16)30158-2 CrossRef Full Text | Google Scholar 7. [frontiersin.org]