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


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

Epileptic Disord 2018 Dec 10. Epub 2018 Dec 10.

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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http://dx.doi.org/10.1684/epd.2018.1009DOI Listing
December 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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http://dx.doi.org/10.1684/epd.2018.0978DOI Listing
June 2018
8 Reads

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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http://dx.doi.org/10.1556/018.68.2018.1.3DOI Listing

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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http://dx.doi.org/10.1530/EDM-17-0139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5813712PMC
February 2018
2 Reads

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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http://dx.doi.org/10.1155/2017/8724810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5723938PMC
November 2017
7 Reads

Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.

Diabet Med 2017 07;34(7):1000-1004

Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.

Background: Children with neonatal diabetes often present with diabetic ketoacidosis and hence are at risk of cerebral oedema and subsequent long-term neurological deficits. These complications are difficult to identify because neurological features can also occur as a result of the specific genetic aetiology causing neonatal diabetes.

Case Reports: We report two cases of neonatal diabetes where ketoacidosis-related cerebral oedema was the major cause of their permanent neurological disability. Read More

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http://doi.wiley.com/10.1111/dme.13328
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http://dx.doi.org/10.1111/dme.13328DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5488205PMC
July 2017
2 Reads

Continuous cardiotocography (CTG) as a form of electronic fetal monitoring (EFM) for fetal assessment during labour.

Cochrane Database Syst Rev 2017 02 3;2:CD006066. Epub 2017 Feb 3.

Cochrane Pregnancy and Childbirth Group, Department of Women's and Children's Health, The University of Liverpool, First Floor, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK, L8 7SS.

Background: Cardiotocography (CTG) records changes in the fetal heart rate and their temporal relationship to uterine contractions. The aim is to identify babies who may be short of oxygen (hypoxic) to guide additional assessments of fetal wellbeing, or determine if the baby needs to be delivered by caesarean section or instrumental vaginal birth. This is an update of a review previously published in 2013, 2006 and 2001. Read More

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http://dx.doi.org/10.1002/14651858.CD006066.pub3DOI Listing
February 2017
25 Reads

From genotype to phenotype in Dravet disease.

Seizure 2017 Jan 21;44:58-64. Epub 2016 Oct 21.

INSERM U1129 "Infantile Epilepsies and Brain Plasticity", Paris, France; Paris Descartes University, PRES Sorbonne Paris Cité, Paris, France; CEA, Gif sur Yvette, France; AdPueriVitam, Antony, France.

Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within the first year of life, often triggered by hyperthermia whatever its cause, including pertussis vaccination. Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. Massive myoclonus, rare absences, complex partial seizures and generalized spikes may appear several years later. Read More

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http://dx.doi.org/10.1016/j.seizure.2016.10.014DOI Listing
January 2017
8 Reads

Guideline conform initial monotherapy increases in patients with focal epilepsy: A population-based study on German health insurance data.

Seizure 2016 Oct 11;41:9-15. Epub 2016 Jul 11.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe University, Frankfurt am Main, Germany; Epilepsy Center Hessen and Department of Neurology, Philipps-University, Marburg, Germany. Electronic address:

Purpose: To examine the implementation of the clinical practice guideline "first epileptic seizure and epilepsy in adulthood" published in 2008 to patients with newly diagnosed epilepsy between 2008 and 2014.

Method: This retrospective, population-based analysis was performed on patient data of 4.1 million insurants from the German statutory health insurance. Read More

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http://dx.doi.org/10.1016/j.seizure.2016.07.001DOI Listing
October 2016
10 Reads

Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report.

J Med Case Rep 2015 Nov 23;9:267. Epub 2015 Nov 23.

Department of Neurology, Sheikh Khalifa Medical City (SKMC), P.O. Box 51900, Abu Dhabi, United Arab Emirates.

Introduction: Unexplained hyperammonemic coma in adults can be a medical dilemma in the absence of triggering factors and known comorbidities. Ornithine transcarbamylase deficiency presents most commonly with hyperammonemic coma. Although a rare disorder, ornithine transcarbamylase deficiency is the most common of the urea cycle disorders, which can occur both in children, and less commonly, in adults. Read More

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http://austinpublishinggroup.com/clinical-neurology/download
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http://www.jmedicalcasereports.com/content/9/1/267
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http://dx.doi.org/10.1186/s13256-015-0741-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4655488PMC
November 2015
4 Reads

Age at onset in patients with medically refractory temporal lobe epilepsy and mesial temporal sclerosis: impact on clinical manifestations and postsurgical outcome.

Seizure 2015 Aug 29;30:42-5. Epub 2015 May 29.

Jefferson Comprehensive Epilepsy Center, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

Purpose: To evaluate the demographic and clinical manifestations and postsurgical outcome of childhood-onset mesial temporal sclerosis and temporal lobe epilepsy (MTS-TLE) and establishing the potential differences as compared to the patients with adult-onset MTS-TLE.

Method: In this retrospective study all patients with a clinical diagnosis of medically refractory TLE due to mesial temporal sclerosis, who underwent epilepsy surgery at Jefferson comprehensive epilepsy center, were recruited. Patients were prospectively registered in a database from 1986 through 2014. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10591311150013
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http://dx.doi.org/10.1016/j.seizure.2015.05.015DOI Listing
August 2015
5 Reads
1 Citation
2.060 Impact Factor

From splitting GLUT1 deficiency syndromes to overlapping phenotypes.

Eur J Med Genet 2015 Sep 17;58(9):443-54. Epub 2015 Jul 17.

AP-HP, Necker-Enfants Malades Hospital, Department of Pediatric Neurology, Paris, France.

Introduction: Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare genetic disorder due to mutations or deletions in SLC2A1, resulting in impaired glucose uptake through the blood brain barrier. The classic phenotype includes pharmacoresistant epilepsy, intellectual deficiency, microcephaly and complex movement disorders, with hypoglycorrhachia, but milder phenotypes have been described (carbohydrate-responsive phenotype, dystonia and ataxia without epilepsy, paroxysmal exertion-induced dystonia). The aim of our study was to provide a comprehensive overview of GLUT1DS in a French cohort. Read More

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http://dx.doi.org/10.1016/j.ejmg.2015.06.007DOI Listing
September 2015
16 Reads

Developmental PCB exposure increases susceptibility to audiogenic seizures in adulthood.

Neurotoxicology 2015 Jan 24;46:117-24. Epub 2014 Dec 24.

Neuroscience Program, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA; Beckman Institute, University of Illinois at Urbana-Champaign, Urbana, IL 60801, USA; Department of Comparative Biosciences, University of Illinois at Urbana-Champaign, Urbana, IL 61802, USA. Electronic address:

Developmental exposure to polychlorinated biphenyls (PCBs) causes auditory deficits. Thus, we recently conducted a study to investigate if developmental PCB exposure would exacerbate noise-induced hearing loss in adulthood. Unexpectedly, some PCB-exposed rats exhibited seizure-like behaviors when exposed to loud noise. Read More

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http://dx.doi.org/10.1016/j.neuro.2014.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339414PMC
January 2015
2 Reads

In vivo effects of bumetanide at brain concentrations incompatible with NKCC1 inhibition on newborn DGC structure and spontaneous EEG seizures following hypoxia-induced neonatal seizures.

Neuroscience 2015 Feb 26;286:203-15. Epub 2014 Nov 26.

Department of Neurology, The First Affiliated Hospital, China Medical University, Shenyang, Liaoning, PR China. Electronic address:

Neonatal seizures caused by perinatal asphyxia and hypoxic-ischemic encephalopathy can be refractory to conventional anticonvulsants. This may be due to the depolarizing effects of gamma-aminobutyric acid (GABA) achieved by the activity of the Na(+)-K(+)-2Cl(-) cotransporter (NKCC1). The aim of this study is to evaluate the long-term effects of bumetanide, a NKCC1 inhibitor, on hippocampal neurogenesis and seizure susceptibility in hypoxia-induced neonatal seizure model. Read More

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http://dx.doi.org/10.1016/j.neuroscience.2014.11.031DOI Listing
February 2015
3 Reads

The course of childhood-onset epilepsy over the first two decades: a prospective, longitudinal study.

Epilepsia 2015 Jan 28;56(1):40-8. Epub 2014 Nov 28.

Department of Pediatrics, Epilepsy Center, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, U.S.A; Department of Pediatrics, Northwestern Memorial Feinberg School of Medi-cine, Chicago, Illinois, U.S.A.

Objectives: Determine frequency of remissions, relapses, and pharmacoresistance over two decades. Develop a composite measure of seizure control over that time.

Methods: Community-based cohort of children with newly diagnosed epilepsy prospectively followed for up to 21 years with frequent calls and periodic medical record review. Read More

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http://dx.doi.org/10.1111/epi.12862DOI Listing
January 2015
9 Reads

[Adult Sturge-Weber syndrome without facial hemangioma: report of one case].

Zhejiang Da Xue Xue Bao Yi Xue Ban 2014 Sep;43(5):588-90

Department of Neurosurgery, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China.

Sturge-Weber syndrome (SWS) is characterized by angiomas affecting the ophthalmic division of the trigeminal nerve, epilepsy, intellectual impairment, hemiplegia and glaucoma. We report a patient who developed SWS without facial hemangioma (SWS type III) in his adulthood. The patient presented with repeated episodes of headache since age 37 year. Read More

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September 2014
7 Reads

[Treatment of epilepsy in patients of adolescence and adulthood].

Nihon Rinsho 2014 May;72(5):853-8

For treatment of epilepsy in patients of adolescence and adulthood, we always take into account all the 3 aspects of 1) diagnosis of seizure type and epilepsy syndrome, 2) existence of comorbidity and 3) interaction between concomitant drugs, and thus an appropriate treatment approach is individualized. The first line antiepileptic drug (AED) used for focal seizure or epilepsy is carbamazepine, and the first line AED for generalized seizure or epilepsy is valproic acid. If monotherapy with these drugs is insufficient, it is recommended to change to another drug or to add other drugs. Read More

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May 2014
7 Reads

Characterisation of a syndrome of autoimmune adult onset focal epilepsy and encephalitis.

J Clin Neurosci 2014 Jul 12;21(7):1169-75. Epub 2013 Dec 12.

Department of Neurology, Westmead Hospital, Westmead, NSW 2145, Australia; Westmead Clinical School, University of Sydney, Sydney, NSW, Australia. Electronic address:

We report a series of patients with a clinical syndrome characterised by the explosive onset in adulthood of recurrent focal seizures of frontotemporal onset and features suggestive of autoimmune encephalitis. We propose that this presentation of "autoimmune adult onset focal epilepsy and encephalitis" is a recognisable clinical syndrome, and provide evidence it may be associated with heterogeneous immunological targets. Between 2008 and 2011 we encountered six patients with new-onset epilepsy in whom we suspected an autoimmune aetiology. Read More

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http://dx.doi.org/10.1016/j.jocn.2013.09.024DOI Listing
July 2014
2 Reads

Hemimegalencephaly: what happens when children get older?

Dev Med Child Neurol 2014 Sep 5;56(9):905-9. Epub 2014 Feb 5.

Division of Neurology, Epilepsy Genetics Program, Toronto Western Hospital, Krembil Neuroscience Centre, University of Toronto, Toronto, ON, Canada.

Aims: Hemimegalencephaly (HME) is a rare congenital malformation of cortical development, usually associated with developmental delay and severe epilepsy. This condition has rarely been reported in adults. The aim of this study was to examine and compare neurological findings in adult patients with HME. Read More

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http://dx.doi.org/10.1111/dmcn.12390DOI Listing
September 2014
5 Reads

GLUT1 deficiency syndrome 2013: current state of the art.

Seizure 2013 Dec 26;22(10):803-11. Epub 2013 Jul 26.

Department of Child Neurology and Psychiatry, Fondazione IRCCS Istituto Neurologico C. Mondino, Pavia, Italy.

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is the result of impaired glucose transport into the brain. The "classic" GLUT1DS patient presents with infantile seizures (resistant to traditional seizure medications), developmental delay, acquired microcephaly, hypotonia, spasticity, and a complex movement disorder consisting of ataxia and dystonia. However, over the years, other clinical manifestations have been described, such as paroxysmal exertion-induced dystonia with or without seizures, choreoathetosis, alternating hemiplegia, and other paroxysmal events, such as intermittent ataxia, dystonia, and migraine. Read More

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http://dx.doi.org/10.1016/j.seizure.2013.07.003DOI Listing
December 2013
3 Reads

Management of CNS-related Disease Manifestations in Patients With Tuberous Sclerosis Complex.

Authors:
Darcy A Krueger

Curr Treat Options Neurol 2013 Oct;15(5):618-33

Departments of Pediatrics and Neurology, University of Cincinnati College of Medicine and Division of Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue ML #2015, Cincinnati, OH, 45229, USA,

Opinion Statement: Historically, before the advent of modern imaging and genetic testing, Tuberous Sclerosis Complex (TSC) was more of a diagnostic challenge and less of a treatment challenge. This is because the natural history of TSC was poorly understood and TSC-specific treatments were non-existent. In the current era, diagnosis is more straightforward but management is much more complex. Read More

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http://dx.doi.org/10.1007/s11940-013-0249-2DOI Listing
October 2013
8 Reads

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet.

Mov Disord 2013 Sep 25;28(10):1439-42. Epub 2013 Jun 25.

Department of Neurology, Radboud University Medical Centre, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, the Netherlands.

Background: Movement disorders are a prominent feature of glucose transporter-1 (GLUT1) deficiency syndrome (GLUT1DS). First-choice treatment is a ketogenic diet, but compliance is poor. We have investigated the effect of the modified Atkins diet as an alternative treatment for movement disorders in GLUT1DS. Read More

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http://dx.doi.org/10.1002/mds.25515DOI Listing
September 2013
4 Reads

Inborn errors of copper metabolism.

Authors:
Stephen G Kaler

Handb Clin Neurol 2013 ;113:1745-54

Unit on Human Copper Metabolism, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA. Electronic address:

Two copper-transporting ATPases are essential for mammalian copper homeostasis: ATP7A, which mediates copper uptake in the gastrointestinal tract and copper delivery to the brain, and ATP7B, which mediates copper excretion by the liver into bile. Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn syndrome (OHS), and a newly identified allelic variant restricted to motor neurons called X-linked distal hereditary motor neuropathy. These three disorders show variable neurological findings and ages of onset. Read More

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00045-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214864PMC
March 2014
2 Reads

Insulinoma: only in adults?-case reports and literature review.

Eur J Pediatr 2014 May 21;173(5):567-74. Epub 2013 Apr 21.

Clinic of Adolescent Medicine, Division of Paediatric Endocrinology and Diabetology, Ostschweizer Kinderspital, Claudiusstrasse 6, 9006, St. Gallen, Switzerland,

Insulinomas first presenting as refractory seizure disorders are well documented in adulthood but rarely found in children. Only a few cases of childhood insulinoma have been reported so far. We report on two adolescents with hyperinsulinaemic hypoglycaemia, initially misdiagnosed as epilepsy and migraine accompagnée, and compare those to other cases published. Read More

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http://dx.doi.org/10.1007/s00431-013-2005-8DOI Listing
May 2014
1 Read

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Mol Genet Metab 2012 Jul 8;106(3):330-44. Epub 2012 May 8.

Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

Niemann-Pick disease type C (NP-C) is a rare inherited neurovisceral disease caused by mutations in either the NPC1 (in 95% of cases) or the NPC2 gene (in around 5% of cases), which lead to impaired intracellular lipid trafficking and accumulation of cholesterol and glycosphingolipids in the brain and other tissues. Characteristic neurological manifestations of NP-C include saccadic eye movement (SEM) abnormalities or vertical supranuclear gaze palsy (VSGP), cerebellar signs (ataxia, dystonia/dysmetria, dysarthria and dysphagia) and gelastic cataplexy. Epileptic seizures are also common in affected patients. Read More

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http://dx.doi.org/10.1016/j.ymgme.2012.03.012DOI Listing
July 2012
15 Reads

[Dravet syndrome as a cause of epilepsy and learning disability].

Tidsskr Nor Laegeforen 2012 Jan;132(1):44-7

Nasjonalt kompetansesenter for sjeldne epilepsirelaterte diagnoser, Oslo universitetssykehus, Norway.

Background: Dravet syndrome is a severe, genetic epileptic encephalopathy with seizures starting during the first year of life. We present a review of the genetic and clinical picture along with treatment aspects.

Material And Methods: This review is based on a non-systematic literature search in PubMed until April 2011 and the personal experiences of the authors. Read More

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http://dx.doi.org/10.4045/tidsskr.11.0539DOI Listing
January 2012
7 Reads

[The clinical spectrum of urea cycle defects in adult patients].

Z Gastroenterol 2011 Jul 2;49(12):1535-42. Epub 2011 Dec 2.

Klinik für Hepatologie, Gastroenterologie und Infektiologie der Heinrich-Heine-Universität Düsseldorf.

Urea cycle defects belong to the most common metabolic disorders with a cumulative incidence of 1:8000. A common trait of urea cycle defects is a disturbed detoxification of ammonia leading to hyperammonemia in the event of a high nitrogen load. Most patients develop symptoms in the neonatal period or in infancy, e. Read More

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http://dx.doi.org/10.1055/s-0031-1281791DOI Listing
July 2011
1 Read

[DiGeorge syndrome: a case report].

Srp Arh Celok Lek 2011 Sep-Oct;139(9-10):681-4

Introduction: DiGeorge syndrome is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart disease, absence or hypoplasia ofthymus (with consecutive immunodeficiency and infections), hypoparathyroidism with consecutive hypocalcaemia, gastrointestinal problems, Delayed psychomotor development, abnormalities of head and face, tendency to develop seizures and psychiatric disorders. Syndrome can be detected prenatally, or during early development, which is of great importance for preventive and therapeutic measures. Read More

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December 2011
2 Reads

Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome.

Authors:
Anne M Comi

Neurologist 2011 Jul;17(4):179-84

Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.

Background: Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain (leptomeningeal angioma). Although SWS is a congenital disorder usually presenting in infancy, occasionally neurological symptoms first present in adulthood and most affected individuals do survive into adulthood with varying degrees of neurological impairment including epilepsy, hemiparesis, visual field deficits, and cognitive impairments ranging from mild learning disabilities to severe deficits. SWS is a multisystem disorder that requires the neurologist to be aware of the possible endocrine, psychiatric, ophthalmologic, and other medical issues that can arise and impact the neurological status of these patients. Read More

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http://pdfs.journals.lww.com/theneurologist/2011/07000/Prese
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/NRL.0b013e318220c5b6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487915PMC
July 2011
2 Reads

[Lennox-Gastaut syndrome--course and treatment].

Tidsskr Nor Laegeforen 2011 Jan;131(1):24-7

Avdeling for kompleks epilepsi (SSE), Oslo universitetssykehus, Postboks 53, 1306 Baerum postterminal, Norway.

Background: Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy, which starts in childhood with various seizure types. The children develop cognitive impairment and a typical EEG pattern. The aim of this article is to describe the clinical presentation of LGS, with particular emphasis on the course in adulthood. Read More

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http://dx.doi.org/10.4045/tidsskr.09.1540DOI Listing
January 2011
1 Read

Chronic high-frequency deep-brain stimulation in progressive myoclonic epilepsy in adulthood--report of five cases.

Epilepsia 2011 Mar 10;52(3):489-96. Epub 2011 Jan 10.

Division of Functional Neurosurgery, Neurosurgical Clinic, Heinrich-Heine-University, Duesseldorf, Germany.

Purpose: To assess the efficacy and tolerability of chronic high-frequency deep brain stimulation (DBS) in adult patients with progressive myoclonic epilepsy (PME) syndromes.

Methods: Five adult patients (four male, 28-39 years) with PME underwent chronic high-frequency DBS according to a study protocol that had been approved by the local ethics committee. Electrodes were implanted in the substantia nigra pars reticulata (SNr)/subthalamic nucleus (STN) region in the first patient and additionally in the ventral intermediate nucleus (VIM) bilaterally in the following four cases. Read More

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http://dx.doi.org/10.1111/j.1528-1167.2010.02884.xDOI Listing
March 2011
2 Reads

3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy.

Neurology 2010 Sep;75(12):1079-83

Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic, Endocrine and Metabolic Diseases (830), PO Box 9101, 6500 HB Nijmegen, the Netherlands.

Objective: 3-Methylglutaconic aciduria type I is a rare inborn error of leucine catabolism. It is thought to present in childhood with nonspecific symptoms; it was even speculated to be a nondisease. The natural course of disease is unknown. Read More

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http://dx.doi.org/10.1212/WNL.0b013e3181f39a8aDOI Listing
September 2010
1 Read

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

J Inherit Metab Dis 2010 Dec 4;33 Suppl 3:S349-53. Epub 2010 Sep 4.

Biochemical Genetics Laboratory - Hilton 3-10-02, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

α-Methyl-acyl-CoA-racemase (AMACR) deficiency (OMIM 604489) is a rare peroxisomal disorder with a variable age of onset from infancy to late adulthood. We describe a 45-year-old male with a history of seizures who presented with relapsing encephalopathy. Laboratory studies revealed an elevated serum pristanic acid concentration, an elevated pristanic/phytanic acid ratio, as well as the previously described homozygous mutation in the AMACR gene, c. Read More

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http://dx.doi.org/10.1007/s10545-010-9183-6DOI Listing
December 2010
5 Reads

[Tropical causes of epilepsy].

Authors:
F J Carod-Artal

Rev Neurol 2009 Nov 1-15;49(9):475-82

Servicio de Neurología, Hospital Virgen de Luz, Cuenca, Espana.

Introduction: Eighty-five percent of all epileptics live in tropical regions. Prenatal risk factors, traumatic brain injuries and different parasitic infestations of the central nervous system (CNS) are the reasons behind the high prevalence of epilepsy. This work reviews the main parasitic infestations causing epilepsy in the tropics. Read More

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February 2010
1 Read

Dravet syndrome: from electroclinical characteristics to molecular biology.

Epilepsia 2009 Sep;50 Suppl 8:3-9

Epilepsy, Sleep and Pediatric Neurophysiology Department, Institute for Children and Adolescents with Epilepsy-IDEE, University Hospitals of Lyon, Lyon, France.

The onset of Dravet syndrome typically occurs within the first year, with prolonged, generalized, or unilateral clonic seizures triggered by fever. In the early stages, other types of refractory seizures usually present that include myoclonic seizures, atypical absences, and partial seizures. Electroencephalography (EEG) findings are not pathognomonic, and signs of cognitive arrest or deterioration progressively appear. Read More

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http://dx.doi.org/10.1111/j.1528-1167.2009.02228.xDOI Listing
September 2009
3 Reads

Seizures and EEG findings in an adult patient with DiGeorge syndrome: a case report and review of the literature.

Seizure 2009 Nov 7;18(9):648-51. Epub 2009 Aug 7.

Department of Neurology, University of Florida Health Science Center/Jacksonville, Jacksonville, FL 32209, United States.

This is the first case report to describe the EEG findings in a patient with DiGeorge syndrome who survived into adulthood. The patient developed generalized tonic-clonic seizures when she was 9 years old and these were associated with hypocalcemia. Despite treatment with calcium, seizures persisted and the patient required antiepileptic medications. Read More

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http://dx.doi.org/10.1016/j.seizure.2009.07.003DOI Listing
November 2009
4 Reads

Intracranial tumors in first year of life: the CHEO experience.

Childs Nerv Syst 2009 Dec 24;25(12):1563-9. Epub 2009 Jun 24.

Division of Neurosurgery, Children's Hospital of Eastern Ontario, 401, Smyth Road, Ottawa, Canada.

Introduction: One seventh of pediatric brain tumors are diagnosed in the first year of life. With more widespread and accessible neuroimaging, these lesions are being diagnosed earlier, but there remains scant literature about their natural history.

Methods: A retrospective review was performed of brain tumor patients presenting to the Children's Hospital of Eastern Ontario (CHEO) through the last 34 years. Read More

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http://link.springer.com/10.1007/s00381-009-0936-1
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http://dx.doi.org/10.1007/s00381-009-0936-1DOI Listing
December 2009
8 Reads

Angelman syndrome (AS, MIM 105830).

Eur J Hum Genet 2009 Nov 20;17(11):1367-73. Epub 2009 May 20.

Centre for Human Genetics, University Hospital Leuven, Belgium.

Angelman syndrome (AS) is a distinct neurogenetic syndrome, first described in 1965. The phenotype is well known in infancy and adulthood, but the clinical features may change with age. The main clinical characteristics include severe mental retardation, epileptic seizures and EEG abnormalilties, neurological problems and distinct facial dysmorphic features. Read More

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http://dx.doi.org/10.1038/ejhg.2009.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986680PMC
November 2009
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Transient loss of consciousness with convulsions in two young adults with potentially fatal underlying heart disease: syncope versus seizures.

BMJ Case Rep 2009 20;2009. Epub 2009 Mar 20.

The Walton Centre for Neurology and Neurosurgery, Neurology, Lower Lane, Fazakerley, Liverpool L9 7LJ, UK.

The differential diagnosis of syncope versus seizures represents a daily challenge for cardiologists and neurologists. Long Q-T syndrome and hypertrophic cardiomyopathy (HCM) are two hereditary arrhythmogenic heart conditions causing syncope in early adulthood. We report the cases of two patients who were reassessed for transient loss of consciousness (TLOC) with convulsions despite treatment. Read More

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http://casereports.bmj.com/cgi/doi/10.1136/bcr.06.2008.0285
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http://dx.doi.org/10.1136/bcr.06.2008.0285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3029527PMC
November 2011
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Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

CNS Spectr 2008 Jul;13(7):598-605

Department of Neurology, Children's National Medical Center, George Washington University School of Medicine, Washington, DC, USA.

Introduction: Succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria) is a rare neurometabolic disorder of gamma-aminobutyric acid degradation. While neurological manifestations, such as developmental delay, are typical during infancy, limited data are available on adolescent and adult symptomatology.

Methods: We overview the phenotype of 33 adolescents and adults (10. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2562649PMC
July 2008
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The natural history of mesial temporal lobe epilepsy.

Authors:
Anne T Berg

Curr Opin Neurol 2008 Apr;21(2):173-8

Department of Biology, Northern Illinois University, DeKalb, Illinois 60115, USA.

Purpose Of Review: Mesial temporal lobe epilepsy is the most common indication for epilepsy surgery, yet little is known about its 'natural' history from initial onset. The review considers the available evidence and gaps in our current knowledge of the subject.

Recent Findings: Although usually surgically treated in adulthood, the majority of people with refractory mesial temporal lobe epilepsy have their initial onset in childhood and adolescence. Read More

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http://dx.doi.org/10.1097/WCO.0b013e3282f36ccdDOI Listing
April 2008
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Fmrp is required for the establishment of the startle response during the critical period of auditory development.

Brain Res 2006 Sep 2;1110(1):159-65. Epub 2006 Aug 2.

Department of Pharmacology, Cornell University, Weill Medical College, LC 522, New York, NY 10021, USA.

Fragile X syndrome, the most common form of inherited mental retardation, is caused by the absence of the FMR-1 gene product FMRP. In addition to the hallmark cognitive defect, other symptoms are also apparent including hyperactivity, seizures and sensory abnormalities including a characteristic increase in sensitivity to auditory, tactile, visual, and olfactory stimuli. Fragile X is a developmental disorder with the first symptoms apparent in the first year of life but little is known about the role of FMRP in developmental processes. Read More

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http://linkinghub.elsevier.com/retrieve/pii/S000689930601943
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http://dx.doi.org/10.1016/j.brainres.2006.06.086DOI Listing
September 2006
3 Reads