33 article(s) found.
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De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy [2023] - 393KB
by Sevgi Yimenicioglu, Ayca Kocaaga
Syntaxin-binding protein 1, encoded by STXBP1, is widely expressed in the brain and plays a critical function in regulating neurotransmitter release and synaptic vesicle fusion by binding to and alter...

A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature [2023] - 829KB
by Özlem Özsoy, Tayfun Cinleti, Selcan Zeybek, Didem Soydemir, Gamze Sarıkaya Uzan, Çağatay Günay, Semra Hız Kurul, Uluç Yiş
Early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615859) is a rare autosomal recessive disorder. It is characterized by refractory seizures, multifocal epileptic activity on electroencephalo...

Autopsy evidence of central and peripheral demyelination in a case of Guillain-Barré syndrome/ Bickerstaff brainstem encephalitis overlap syndrome [2023] - 431KB
by Ana Gabriela B Cabungcal, Ma Luisa Gwenn Pabellano-Tiongson
We report a case of a 59-year-old male who had acute, severe, rapidly progressive ascending weakness, which progressed to difficulty of breathing in a span of twelve hours. Neurophysiologic studies sh...

Resistant dermatomyositis as a manifestation of post COVID-19 infection: A case report [2023] - 682KB
by Hugo D Wiradarma, Herlyani Khosama, Arthur H P Mawuntu, Seilly Y Jehosua, Aryani Adji, Meilany F Durry, Luh A Indrawati
Many autoimmune diseases were reported as a sequel of SARS CoV-2 infection. We report here a 51-year-old female who presented with myalgia, progressive quadriparesis, and skin rash 2 weeks after COVID...

Fatal triad of checkpoint inhibitors: Pembrolizumab induced myasthenia gravis with myositis and myocarditis in a patient with thymoma [2023] - 511KB
by Demet Seker, Ahmet Yildirim
Pembrolizumab is an immune checkpoint inhibitor that acts by blocking programmed cell death proteins, however, its use is limited in patients with thymoma. We describe a 31-year-old woman with thymoma...

Successful case of Lance-Adams syndrome treatment with early use of perampanel after targeted therapeutic hypothermia [2023] - 180KB
by Ji Ho Lee, Dong Hun Lee
Perampanel (PER), approved as an antiseizure medication in 2012, is a selective non-competitive antagonist of α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptors. PER is used as an ...

Can exostoses of the external occipital protuberance and superior nuchal lines cause headache? A report of two cases [2023] - 1,308KB
by Sinan BAHADIR
Compression of the occipital nerves can cause occipital headache. Several potential compression points have been identified along their course. One of these points is the hitherto undescribed instance...

Can cluster headache occur in the occipital region? [2023] - 178KB
by Alper Mengi, Bengi Gül Türk, Ugur Uygunoglu
Cluster headache is typically observed in the orbital, supraorbital or temporal regions, or in a combination of the above. The site of pain is one of the diagnostic criteria for cluster headache inclu...

MOGAD following anti-NMDAR encephalitis: A case report [2023] - 531KB
by Tian Nie, Wan Wei
Anti-N-methyl-D-aspartate receptor antibody and myelin oligodendrocyte glycoprotein antibody can coexist. Some patients have NMDAR encephalitis and MOG antibody disease successively. We report a rare ...

Not a usual sight: A rare case of pineal gland tumor associated with Down syndrome presenting with absence of ophthalmologic signs: A case report [2023] - 2,871KB
by Zenyros Faith A Sabellano, Mark Timothy T Cinco, Steven G Villaraza
We describe a 24-year old man diagnosed with Down syndrome who developed intracranial germinona located at the pineal region who presented with no ophthalmologic signs on neurologic examination on adm...

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