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510 Possible Causes for Absence Seizure, Generalized Dystonia

  • Paroxysmal Exertion-Induced Dyskinesia

    ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia. Neurology 2014;82(12):1065-7.[books.google.com] seizures.[acronymfinder.com] Dystonia Dystonia that occurs at rest may persist as the kinetic (clonic) form. Dystonias can be either focal or generalized.[encyclopedia.com]

  • Generalized Epilepsy with Febrile Seizures Plus

    Dystonia, Movement Disease, L-2-Hydroxyglutaric Aciduria, 2-Hydroxyglutaric Aciduria D-2-Hydroxyglutaric Aciduria Show all 9 GCG glucagon 2q24.2 Type 2 Diabetes Mellitus,[genecards.weizmann.ac.il] Clinical phenotypes included FS (29.2%), FS (29.2%), IGE (18.2%), FS with focal seizures (13%) or absence seizures (2.6%), and FS with absence seizures (2.6%).[ncbi.nlm.nih.gov] seizures, and absence seizures.[crd.york.ac.uk]

  • Juvenile Absence Epilepsy

    […] epilepsy with febrile seizures plus 3 AD 15 JRK 603210 22 SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility[centogene.com] seizure, mal petit seizures, Seizure;absence, absence seizure, absence seizure disorder, absences epilepsy, childhood absence epilepsy, petit mal epilepsy, seizures absence[fpnotebook.com] […] epilepsy with febrile seizures plus 7 AD, AR 77 SLC2A1 138140 Dystonia-9; GLUT1 deficiency syndrome; dystonia 18; Epilepsy, idiopathic generalized, suscpetibility to, 12[centogene.com]

  • Familial Infantile Myoclonic Epilepsy

    10 Dystonia, Familial Paroxysmal Paroxysmal Kinesigenic Choreoathetosis Paroxysmal Kinesigenic Dyskinesia EKD1 DYT10 PKC PKD 128200 Genetic Test Registry Generalized Epilepsy[ukgtn.nhs.uk] Absence seizure is the major seizure type in juvenile absence epilepsy and myoclonic seizures are prominent in juvenile myoclonic epilepsy.[epilepsyfoundationmn.org] Absence An absence seizure is characterized by a lapse of awareness, or staring into space. A simple absence seizure generally lasts less than 10 seconds.[dup15q.org]

  • Benign Familial Infantile Epilepsy Type 4

    Paroxysmal kinesigenic dyskinesia (PKD, OMIM128200) was first described by Demirkiran, who suggested using the generic term “dyskinesia”, rather than dystonia, chorea, or[bmcneurol.biomedcentral.com] Other subtypes of generalised seizures include absence, myoclonic, clonic, tonic and atonic seizures. Absence seizures (petit mal) mainly affect children.[patient.info] List of reported Symptoms of EIEE7 Seizures, tonic Seizures, clonic Generalized stiffening Automatisms (repetitive actions performed unconsciously) Delayed development Intellectual[kcnq2cure.org]

  • Postictal State

    […] and/or paresis; and 4) complex automatisms or secondary generalization.[scielo.br] What is an atypical absence seizure? These seizures are a type of absence seizure that is atypical (a-TIP-i-kul).[epilepsy.com] Administration of endogenous opioids has been shown to result in absence-like seizures in animal models.[pubmedcentral.nih.gov]

  • Adult-Onset Cervical Dystonia Type DYT23

    DYT1 dystonia typically presents as early onset, generalized dystonia, starting in the legs.[neupsykey.com] This condition has a strong association with epilepsy, mostly absence seizures, as well as ataxia, mild cognitive impairment, hemolytic anemia, reticulocytosis and hypoglycorrhachia[docplayer.net] Epilepsy (absence) in childhood panel CACNA1H, GABRA1, GABRB3, GABRG2, JRK,... Epilepsy (generalized) with febrile seizures panel GABRD, GABRG2, SCN1A, SCN1B, SCN2A,...[centogene.com]

  • Phenylketonuria

    These biopterin cofactor disorders also are associated with intellectual disability but generally cause more consistent disorders of tone (mixed hypo/hypertonias, dystonias[clinicaladvisor.com] , stunted growth, microcephaly, seizures, tremors, eczema, vomiting, and musty odor.[orpha.net] , microcephaly, seizures, tremors, eczema, vomiting, musty odor, and subsequently behavioral (hyperactivity) and motor disorders.[orpha.net]

  • Focal Motor Seizure

    The disorder may be focal (affecting one body region) or more generalized;it is likely that the two entities have different etiologies.[grantome.com] الصفحة 11 - Atypical absence seizures B. Myoclonic seizures C. Clonic seizures D. Tonic seizures E. Tonic-clonic seizures F. Atonic seizures (astatic seizures) III. ‏[books.google.com] Absence Seizure (formally known as “Petit Mal”) A generalized seizure, especially prevalent in children three to fourteen years old, is absence.[efmny.org]

  • GLUT1 Deficiency Syndrome

    Dystonia is a general term for a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful,[checkorphan.org] We describe a young man with early-onset absence seizures and paroxysmal exercise-induced dyskinesia.[ncbi.nlm.nih.gov] 9 However, GLUT1 DS can be generalized under two “umbrellas:” common GLUT1 deficiency syndrome and non-epileptic GLUT1 deficiency syndrome.[patientworthy.com]

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