ATP1A2‐related epileptic encephalopathy and movement disorder: Clinical features of three novel patients
Epileptic Disorders
by Natalia Martínez Córdoba, Isabella Lince‐Rivera, Jorge Luis Ramón Gómez, Guido Rubboli, Sebastián Ortiz De la Rosa
6d ago
Abstract Objective Variants in the ATP1A2 gene exhibit a wide clinical spectrum, ranging from familial hemiplegic migraine to childhood epilepsies and early infantile developmental epileptic encephalopathy (EIDEE) with movement disorders. This study aims to describe the epileptology of three unpublished cases and summarize epilepsy features of the other 17 published cases with ATP1A2 variants and EIDEE. Methods Medical records of three novel patients with pathogenic ATP1A2 variants were retrospectively reviewed. Additionally, the PUBMED, EMBASE, and Cochrane databases were searched until Decem ..read more
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Photosensitivity and self‐induction in patients aged 50 and older
Epileptic Disorders
by C. J. J. van Asch, W. P. J. Spetgens, M. D. Bourez‐Swart, A. M. Meppelink, C. L. P. Deckers, D. van Blooijs, D. G. A. Kasteleijn‐Nolst Trenité
6d ago
Abstract Objective Photosensitivity is known to occur predominantly in children and adolescents and with a clear female predominance. Little is known on the prevalence of photosensitivity in older patients (50+) and its phenotypical appearance. Methods A retrospective observational study was performed investigating the prevalence of a photoparoxysmal EEG response (PPR) on at least one EEG during the period 2015–2021. Data were gathered from patients aged 50 years and older by retrieving clinical and EEG characteristics from existing medical records. Data on photosensitivity-related symptoms in ..read more
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Seizure provocation in EEG recordings: A data‐driven approach
Epileptic Disorders
by Pirgit Meritam Larsen, Stephan Wüstenhagen, Daniella Terney, Elena Gardella, Harald Aurlien, Sándor Beniczky
1w ago
Abstract Objective Recording seizures on video-EEG has a high diagnostic value. However, bilateral convulsive seizures constitute a risk for the patients. Our aim was to investigate the diagnostic yield and associated risks of provocation methods in short-term video-EEGs. Methods We extracted data on seizures and provocation methods from a large database of short-term video-EEGs with standardized annotations using SCORE (Standardized Computer-based Organized reporting of EEG). Results 2742 paroxysmal clinical episodes were recorded in 11 919 consecutive EEGs. Most epileptic seizures (54%) were ..read more
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Introduction and modification of the ketogenic diet in an adult patient with glucose transporter 1 deficiency syndrome
Epileptic Disorders
by Shin Nabatame, Kanako Kishimoto, Toshiyuki Mano
1w ago
Epileptic Disorders, EarlyView ..read more
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Rotatory seizures: Three video case reports
Epileptic Disorders
by Mete Aykut Güniken, Ümit Zanapalıoğlu, Ozdem Ertürk Cetin
1w ago
Epileptic Disorders, EarlyView ..read more
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Point prevalence of epilepsy in dementia: A “real‐world” estimate
Epileptic Disorders
by Antonella Muroni, Gianluca Floris, Giuseppe Borghero, Silvia Ardu, Maria Ida Pateri, Silvy Pilotto, Giada Pisano, Giovanni Defazio
2w ago
Abstract Objective Several studies have demonstrated a higher frequency of seizures and epilepsy in Alzheimer's disease and other forms of dementia as compared with healthy elderly individuals. However, incidence and prevalence of epilepsy in the general population of dementia are unknown since most previous studies were performed in secondary-tertiary referral centres. In addition, all prior studies but one provided “period” rather than “point” prevalence estimates. Methods We assessed point prevalence estimate of epileptic manifestations requiring antiepileptic medication in patients Alzheim ..read more
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Pure amnestic seizure: A clinico‐intracranial EEG study
Epileptic Disorders
by Norihiko Kawaguchi, Yushi Inoue, Kiyohito Terada, Naotaka Usui
2w ago
Abstract Objective Enduring anterograde amnesia is caused by lesions in bilateral mesial temporal lobes. However, whether transient dysfunction of bilateral mesial temporal regions induces reversible amnesia has not been proven. We investigated this association in patients with epilepsy and analyzed the electroclinical correlation during pure amnestic seizures (PAS). PAS are defined as seizures with anterograde amnesia as the only ictal manifestation, accompanied by preserved responsiveness and other cognitive functions. Methods We retrospectively searched our intracranial EEG database to find ..read more
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Emergence of lingual dystonia and strabismus in early‐onset SCN8A self‐limiting familial infantile epilepsy
Epileptic Disorders
by Caterina Ancora, Juan Dario Ortigoza‐Escobar, Margherita Aluffi Valletti, Francesca Furia, Jens Erik Klint Nielsen, Rikke S. Møller, Elena Gardella
3w ago
Abstract Pathogenic variants in SCN8A are associated with a broad phenotypic spectrum, including Self-Limiting Familial Infantile Epilepsy (SeLFIE), characterized by infancy-onset age-related seizures with normal development and cognition. Movement disorders, particularly paroxysmal kinesigenic dyskinesia typically arising after puberty, may represent another core symptom. We present the case of a 1-year-old girl with a familial disposition to self-limiting focal seizures from the maternal side and early-onset orofacial movement disorders associated with SCN8A-SeLFIE. Brain MRI was normal. Gen ..read more
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Intraoperative ECoG in bottom‐of‐the‐sulcus syndrome using a novel flexible strip electrode
Epileptic Disorders
by Niccolò Biagioli, Sofia Morandi, Anna Elisabetta Vaudano, Matteo Pugnaghi, Elisa Moriconi, Giacomo Pavesi, Vincenzo Tramontano, Stefano Meletti
1M ago
Abstract The recording of epileptiform discharges from bottom-of-sulcus focal cortical dysplasia (BOSD) is often difficult during intraoperative electrocorticography (ECoG) due to the deep localization. We describe the use in this scenario of a new-generation electrode strip with high flexibility, easily adapted to cortical gyri and sulci. A right-handed 20-year-old male with drug-resistant focal epilepsy due to BOSD of the inferior frontal gyrus and daily focal aware seizures was evaluated for epilepsy surgery. Based on electroclinical and neuroimaging results, a focal cortectomy guided by EC ..read more
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Acute encephalopathy with biphasic seizures and late reduced diffusion with concurrent transverse myelitis
Epileptic Disorders
by Amanda Austin‐Keiller, Christine Saint‐Martin, Kenneth A. Myers
1M ago
Abstract We describe a patient with acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) with unique features, including concurrent transverse myelitis. A 2-year-old previously healthy girl had clinical findings consistent with AESD, occurring in association with influenza A infection. The posterior brain regions were most severely affected, resulting in cortical blindness. She also developed bilateral limb weakness, and spine MRI revealed transverse myelitis in the cervical region. She was treated acutely with intravenous methylprednisolone. Serum anti-myelin oligoden ..read more
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