90 results match your criteria First Seizure in Adulthood Diagnosis and Treatment

Genetic generalized epilepsies in adults - challenging assumptions and dogmas.

Nat Rev Neurol 2022 Feb 26;18(2):71-83. Epub 2021 Nov 26.

Epilepsy-Center Berlin-Brandenburg, Department of Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Genetic generalized epilepsy (GGE) syndromes start during childhood or adolescence, and four commonly persist into adulthood, making up 15-20% of all cases of epilepsy in adults. These four GGE syndromes are childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic-clonic seizures alone. However, in ~20% of patients with GGE, characteristics of more than one syndrome are present. Read More

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February 2022

Clinical characteristics and postoperative seizure outcome in patients with mild malformation of cortical development and oligodendroglial hyperplasia.

Epilepsia 2021 12 11;62(12):2920-2931. Epub 2021 Oct 11.

Department of Epileptology (Krankenhaus Mara), Medical School, Bielefeld University, Campus Bielefeld-Bethel, Bielefeld, Germany.

Objective: We describe for the first time clinical characteristics in a series of 20 pre-surgically investigated patients with mild malformation of cortical development with oligodendroglial hyperplasia (MOGHE) who were operated on in our epilepsy center. We aimed to better diagnose this entity and help surgical planning.

Methods: Data on 20 patients with histologically confirmed MOGHE were retrospectively evaluated as to age at epilepsy onset and operation, seizure semiology, magnetic resonance imaging (MRI) localization, electroencephalography (EEG) patterns, extent of the operative resection, and postoperative seizure outcome. Read More

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December 2021

Management of a first unprovoked epileptic seizure in adolescence and adulthood.

Epileptic Disord 2021 Aug;23(4):537-551

Department of Neurosciences and Mental Health (Neurology), HSM-CHULN, Epilepsy Surgery Group, Department of Neurosciences (Neurology), HSM-CHULN, Full member of the ERN Epicare.

An epileptic seizure is one of the causes of so-called "transient neurological events" (TNEs). The differential diagnosis of a TNE relies mainly on history and physical examination. Laboratory markers are less frequently useful. Read More

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Development of an antiseizure drug screening platform for Dravet syndrome at the NINDS contract site for the Epilepsy Therapy Screening Program.

Epilepsia 2021 07 17;62(7):1665-1676. Epub 2021 May 17.

Epilepsy Therapy Screening Program (ETSP) Contract Site, University of Utah, Salt Lake City, UT, USA.

Objective: Dravet syndrome (DS) is a rare but catastrophic genetic epilepsy, with 80% of patients carrying a mutation in the SCN1A gene. Currently, no antiseizure drug (ASD) exists that adequately controls seizures. In the clinic, individuals with DS often present first with a febrile seizure and, subsequently, generalized tonic-clonic seizures that can continue throughout life. Read More

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A systematic review of adults with Dravet syndrome.

Seizure 2021 Apr 22;87:39-45. Epub 2021 Feb 22.

Institute of Medical Science, Faculty of Medicine, University of Toronto, Toronto, Canada; Adult Epilepsy Genetics Program, Division of Neurology, Krembil Research Institute, Toronto Western Hospital, Toronto, Canada; Division of Neurology, Department of Medicine, University of Toronto, ON, Canada; Krembil Neurosciences Institute, University Health Network, Toronto, ON, Canada. Electronic address:

Dravet Syndrome (DS) is a rare and severe infantile-onset epileptic encephalopathy. DS research focuses mainly on children. We did a systematic review, completed on January 18, 2021, examining the number of clinical DS studies. Read More

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Sturge-Weber syndrome presenting in late adulthood.

BMJ Case Rep 2021 Feb 10;14(2). Epub 2021 Feb 10.

Neurology, Cardiff and Vale University Health Board, Cardiff, UK.

A 75-year-old woman presents to the acute medical take with confusion and headache following a road traffic accident. She had previously been fit and well, living alone with no assistance. Following multiple investigations, she was diagnosed with Sturge-Weber Syndrome, a rare neurocutaneous disorder that usually presents with seizures in childhood. Read More

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February 2021

Expert opinion: Proposed diagnostic and treatment algorithms for Lennox-Gastaut syndrome in adult patients.

Epilepsy Behav 2020 09 18;110:107146. Epub 2020 Jun 18.

Banner University Medical Center, University of Arizona, 1111 E McDowell Rd, Phoenix, AZ 85006, USA. Electronic address:

Lennox-Gastaut syndrome (LGS) is a severe developmental epileptic encephalopathy diagnosed in childhood that persists through adolescence and into adulthood. While the characteristics of LGS in pediatric patients are well defined, including "drop attacks", interictal slow spike and wave electroencephalogram (EEG) activity, and intellectual disability, these features can evolve over time, and different EEG activities may be present in adult patients with LGS. This may result in missed diagnoses in these patients and subsequent challenges for the adequate treatment of their seizures. Read More

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September 2020

Case report of a familial triple: a syndrome and review of the literature.

Medicine (Baltimore) 2020 May;99(22):e20474

Pediatric Unit, Maternal and Child Department, Azienda USL of Reggio Emilia, Sant'Anna Hospital, Castelnovo ne' Monti, Italy.

Rationale: Triple-A syndrome, or Allgrove syndrome (AS), is a rare autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia usually starts at early infancy, while achalasia and adrenal insufficiency appear later during childhood or adulthood. Some patients may also present with the so-called Double-A syndrome (i. Read More

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A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia.

Endocrinol Diabetes Metab Case Rep 2020 May 5;2020. Epub 2020 May 5.

Endocrinology, Diabetes and Metabolism Department, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.

Summary: Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usually presents with neurological symptoms in the first months of life. Read More

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Propofol-induced refractory status epilepticus at remission age in benign epilepsy with centrotemporal spikes: A case report and literature review.

Medicine (Baltimore) 2019 Jul;98(27):e16257

Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.

Rationale: Benign epilepsy with centrotemporal spikes (BECTS) is one of the most common forms of childhood epilepsy, which is expected to resolve before 16 years of age, with mild effects on the cognitive or behavioral functions in adulthood. This study aims to report the first propofol-induced refractory status epilepticus (SE) in patients with BECTS after 16 years of age, and to review SE in BECTS or induced by propofol.

Patient Concern: A 16-year-old Chinese girl, who was diagnosed with BECTS at the age of 2 years, developed refractory SE induced by propofol administered during the maintenance stage of general anesthesia during a plastic surgery procedure. Read More

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Treatment of infantile spasms.

Shaun A Hussain

Epilepsia Open 2018 Dec 23;3(Suppl Suppl 2):143-154. Epub 2018 Oct 23.

Division of Pediatric Neurology David Geffen School of Medicine UCLA Mattel Children's Hospital Los Angeles California U.S.A.

The treatment of infantile spasms is challenging, especially in the context of the following: (1) a severe phenotype with high morbidity and mortality; (2) the urgency of diagnosis and successful early response to therapy; and (3) the paucity of effective, safe, and well-tolerated therapies. Even after initially successful treatment, relapse risk is substantial and the most effective therapies pose considerable risk with long-term administration. In evaluating any treatment for infantile spasms, the key short-term outcome measure is freedom from both epileptic spasms and hypsarrhythmia. Read More

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December 2018

Early and long-term electroclinical features of patients with epilepsy and PCDH19 mutation.

Epileptic Disord 2018 Dec;20(6):457-467

Pediatric Neurology Department, Centre de Référence des Épilepsies Rares, Necker Enfants Malades Hospital, Paris, Inserm U1129, Paris; University Paris Descartes; CEA, Gif sur Yvette.

Protocadherin 19 (PCDH19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a "Dravet-like" phenotype. We aimed to elucidate the electroclinical phenotype associated with PCDH19 mutation, which is currently difficult to identify at onset leading to a delay in diagnosis. We retrospectively reviewed clinical and EEG data for 13 consecutive patients with PCDH19 mutations or deletions diagnosed at our centers from 2009 to 2011, and followed these patients into adolescence and adulthood. Read More

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December 2018

Perampanel in routine clinical use in idiopathic generalized epilepsy: The 12-month GENERAL study.

Epilepsia 2018 09 31;59(9):1740-1752. Epub 2018 Jul 31.

University Hospital Vall d'Hebrón, Barcelona, Spain.

Objective: To analyze the effectiveness and tolerability of perampanel across different seizure types in routine clinical care of patients with idiopathic generalized epilepsy (IGE).

Methods: This multicenter, retrospective, 1-year observational study collected data from patient records at 21 specialist epilepsy units in Spain. All patients who were aged ≥12 years, prescribed perampanel before December 2016, and had a confirmed diagnosis of IGE were included. Read More

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September 2018

A case of perioral myoclonia with absences and its evolution in adulthood?

Epileptic Disord 2018 Jun;20(3):195-199

Istanbul University, Cerrahpasa Medical Faculty, Department of Neurology, Istanbul, Turkey.

The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Read More

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Giant convexity chondroma with meningeal attachment.

Clin Neurol Neurosurg 2018 06 27;169:37-40. Epub 2018 Mar 27.

Department of Neurosurgery, Jena University Hospital, Am Klinikum 1, 07747 Jena, Germany.

Objective: Intracranial chondroma is a rare and benign tumor with usual onset in young adulthood. The skull base is the most common site of occurrence although, less often, the tumors can appear at the falx cerebri or at the dural convexity. The differentiation of these lesions from meningiomas through imaging is generally difficult. Read More

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T-2 mycotoxin treatment of newborn rat pups does not significantly affect nervous system functions in adulthood.

Acta Biol Hung 2018 Mar;69(1):29-41

1 Department of Physiology and Neurobiology, Eötvös Loránd University , Budapest , Hungary.

T-2 toxin is primarily produced by Fusarium sp. abundant under temperate climatic conditions. Its main harmful effect is the inhibition of protein synthesis. Read More

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Myoclonus in Angelman syndrome.

Epilepsy Behav 2018 05 17;82:170-174. Epub 2018 Mar 17.

Angelman Syndrome Clinic, Massachusetts General Hospital, Boston, MA, United States. Electronic address:

Angelman syndrome (AS) is a neurogenetic imprinting disorder caused by loss of the maternally inherited Ube3a gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Myoclonic seizures are often the first seizure type to appear, and myoclonic status, associated with developmental regression, may occur in the first few years of life. Additionally, there have been rare reports of prolonged episodes of myoclonus without electrographic correlate in adults with AS. Read More

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Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1.

Pediatr Diabetes 2018 08 27;19(5):898-904. Epub 2018 Mar 27.

Department of Paediatric Endocrinology, Erciyes University Medical Faculty, Kayseri, Turkey.

The basic helix-loop-helix (bHLH) transcription factor, neuronal differentiation 1 (NEUROD1) (also known as BETA2) is involved in the development of neural elements and endocrine pancreas. Less than 10 reports of adult-onset non-insulin-dependent diabetes mellitus (NIDDM) due to heterozygous NEUROD1 mutations and 2 cases with permanent neonatal diabetes mellitus (PNDM) and neurological abnormalities due to homozygous NEUROD1 mutations have been published. A 13 year-old female was referred to endocrine department due to hyperglycemia. Read More

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Adult female with symptomatic AVPR2-related nephrogenic syndrome of inappropriate antidiuresis (NSIAD).

Endocrinol Diabetes Metab Case Rep 2018 9;2018. Epub 2018 Feb 9.

Department of Diabetes and Endocrinology, UCLH NHS Foundation Trust, London, UK.

Activating mutations in are associated with nephrogenic syndrome of inappropriate antidiuresis (NSIAD). NSIAD causes hyponatremia, decreased serum osmolality and clinical symptoms, which may present from birth or in infancy and include hypotonia, irritability, vomiting and/or seizures. Symptoms in later life are often less specific and include malaise, dizziness, confusion, tiredness and headache. Read More

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February 2018

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.

Case Rep Crit Care 2017 27;2017:8724810. Epub 2017 Nov 27.

Division of Hospital Internal Medicine, Mayo Clinic, Jacksonville, FL, USA.

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt investigation and treatment. Read More

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November 2017