Objectives: To describe the complex phenotype of ATP1A3 and second to report new mutation
of ATP1A3. Methods: This is a retrospective chart review of 7 patients who was diagnosed …

Objective Through international collaboration, we evaluated the phenotypic aspects of a
multiethnic cohort of KCNT1‐related epilepsy and explored genotype‐phenotype correlations …

Human disorders of the enteric nervous system (ENS), eg, Hirschsprung’s disease, are rarely
associated with major central nervous system involvement. We describe two families each …

Ataxia telangiectasia (AT) is a rare autosomal recessive multisystemic disorder. It usually
presents in toddler years with progressive ataxia and oculomotor apraxia, or less commonly, in …

Background Hyperekplexia is a rare disorder characterized by exaggerated startle responses
to unexpected sensory stimuli, recurrent apneas, and stiffness. Only few studies have been …

A 9-month-old boy with migrating partial seizures of infancy due to a de novo KCNT1 mutation
c.2278A>T (p.Ile760Phe) developed bluish discoloration of the hands, feet, and lips (figure…

Despite large sequencing and data sharing efforts, previously characterized pathogenic
variants only account for a fraction of Mendelian disease patients, which highlights the need for …

This second comprehensive chronology of international terrorist attacks covers three
eventful years during which the Islamic State supplanted al-Qaeda as the most active, well-financed …

Methods: We collected 24 TSC inpatients with major clinical manifestations of refractory epilepsy
from 2016 to 2018, including 10 males and 14 females. The age of onset is ranged from …

… lambang periwayatan yang digunakan oleh Abu@ Kha@lid Al-Ahmar adalah ‘an, dengan
menerima riwayat dari gurunya tersebut bisa dinilai bersambung, sebab selain dari history …