There are several distinct forms that overlap in presentation but are distinguishable by several clinical, neurophysiologic, and genetic factors that will be reviewed here. [medlink.com]

Patients present with motor arrest, unresponsiveness, head and/or eye deviation to one side, staring, fluttering of eyelids, grunting, cyanosis, diffuse hypertonia and unilateral or bilateral clonic jerks of the limbs. [orpha.net]

On the opposite side of the spectrum, the group of benign epilepsy syndromes presented in this book is clearly more prevalent in childhood than the intractable epilepsies. [books.google.de]

Benign (nonfamilial) infantile epilepsy presents in neurologically normal infants in the first year of life. [neupsykey.com]

• Gagging

  These behaviors may range from gagging, lip smacking, running, screaming, crying, and/or laughing. Children do not remember what they experience during this seizure type. [texaschildrens.org]

• Hypertension

  19 Medicine hipertensión intracraneal benigna benign intracranial hypertension 20 Medicine hipertrofia prostática benigna benign prostatic hypertrophy 21 Medicine hipotonía congénita benigna benign congenital hypotonia 22 Medicine lesión linfoepitelial [termbank.com]

  […] response) Adverse effects: concentric visual field deficits, irritability, insomnia, hypotonia Follow with ERG ACTH 75 U/m 2 IM bid x2wks, then taper 50-90% response by 7-10 days Especially if cryptogenic Adverse effects: irritability, cerebral atrophy, hypertension [emilytam.com]

  / 임신 중절(termination of pregnancy) / 유산(abortion) / 피임(contraception) 재활의학(rehabilitation medicine) / 간경화(liver cirrhosis) / 간염(Hepatitis) / 간질(Epilepsy) / 갑상선암(Throid cancer) / 결막염(Conjunctivitis) / 결석(Calculus) / 결핵(Tuberculosis) / 골절(Fracture) 고혈압(Hypertension [dic.impact.pe.kr]

• Torticollis

  Beryl Harding and Christopher Marsden}, journal={Annals of neurology}, year={1991}, volume={29 3}, pages={ 320-4 } } A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis [semanticscholar.org]

  Tournier-Lasserve E 23077016 2012 43 PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures. 61 Scheffer IE...Dibbens LM 23077018 2012 44 Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis [malacards.org]

  View Article PubMed Google Scholar Dale RC, Gardiner A, Antony J, Houlden H: Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. [bmcneurol.biomedcentral.com]

• Long Arm

  Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p13” refers to band 13 on the short arm of chromosome 11. [kcnq2cure.org]

  The KCNQ3 gene is located on the long arm of chromosome 8, at 8q24, and consists of 15 exons spread across 360kb of genomic DNA. The 849 amino acid KCNQ3 protein has a structure very similar to that of the KCNQ2 protein described above. [intechopen.com]

• Restless Legs Syndrome

  제외：데라 투렛 증후군(de la Tourette's syndrome)(F95.2) 틱(tic) NOS(F95.9) G25.8 기타 명시된 추체외로 및 운동 장애(Other specified extrapyramidal and movement disorders) 하지불안 증후군(Restless leg syndrome) 강직인간 증후군(Stiff-man syndrome) G25.9 상세불명의 추체외로 및 운동 장애(Extrapyramidal and [dic.impact.pe.kr]

• Psychomotor Retardation

  Occurrence of other types of seizures, appearance of psychomotor retardation, usually severe, development of neurological signs and persistence of seizures in adulthood with resistance to antiepileptic drugs distinguish SIME from BIME. [onlinelibrary.wiley.com]

  The patients responded well to conventional anticonvulsants which were then discontinued without recurrence of seizures or psychomotor retardation. [omim.org]

  The disorder is characterized by frequent episodes of uncontrolled electrical disturbances in the brain (seizures) and, in many cases, delays in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation [kcnq2cure.org]

  […] average DOL#10) Associated with cerebral dysgenesis (hemimegalencephaly, porencephaly, Aicardi syndrome, agenesis of mammilary bodies), linear sebaceous nevus syndrome Clinical features: Tonic spasms, partial seizures, rare myoclonic seizures Severe psychomotor [emilytam.com]

  retardation until the age of 1 year, febrile or afebrile convulsions, or EEG spikes with no clinical seizures. [emedicine.medscape.com]

• Chorea

  G25.5 기타 무도병(Other chorea) 무도병(Chorea) NOS 제외：심장침습을 동반한 무도병(chorea with heart involvement) NOS(I02.0) 헌팅톤 무도병(Huntington's chorea)(G10) 류마티스성 무도병(rheumatic chorea)(I02.-) 시덴함 무도병(Sydenham's chorea)(I02.-) G25.6 약물유발성 틱 및 기질적 원인의 틱(Drug-induced tics and [dic.impact.pe.kr]

  The attacks typically last only several seconds and result in dystonia, chorea, athetosis, or ballism. The involuntary movements do not cause loss of consciousness. [genedx.com]

  Dyskinesias are intermittent movement disorders that can present as dystonia, chorea, and ballism and can vary in duration. [epilepsygenetics.net]

  Corresponds to variant dbSNP:rs2228988Ensembl. 1Natural variantiVAR_081431424V → M Probable disease-associated mutation found in a patient with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea [uniprot.org]

• Myokymia

  Some patients have additional symptoms such as myokymia (involuntary rippling muscle movements). Mutations in the voltage-gated potassium channel KCNQ2 are the most frequent cause of BFNS; in 60% of the BFNS patients a mutation in KCNQ2 is found. [molgen.ua.ac.be]

  Electroclinical syndrome Gene or CNV Associated features (may not be present) Inherit Mutation frequency Benign familial neonatal epilepsy KCNQ2 Myokymia (one family) AD 80% KCNQ3 5% inv(5)(p15q11) 1 family Benign familial neonatal-infantile epilepsy [rch.org.au]

  Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A 2001;98:12272–12277. 15. Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H. [e-cep.org]

  제외：안면성 근파동증(facial myokymia)(G51.4) 간대성 근경련증성 간질(myoclonic epilepsy)(G40.-) G25.4 약물유발성 무도병(Drug-induced chorea) 약물유발성일 때 약물감별을 원한다면 추가로 외인분류번호(XX장)를 사용할 것. [dic.impact.pe.kr]

  Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. [ncbi.nlm.nih.gov]

• Irritability

  Other problems with newborn P90 Convulsions of newborn P91 Other disturbances of cerebral status of newborn P91.0 Neonatal cerebral ischemia P91.1 Acquired periventricular cysts of newborn P91.2 Neonatal cerebral leukomalacia P91.3 Neonatal cerebral irritability [icd10data.com]

  insomnia, hypotonia Follow with ERG ACTH 75 U/m 2 IM bid x2wks, then taper 50-90% response by 7-10 days Especially if cryptogenic Adverse effects: irritability, cerebral atrophy, hypertension, sepsis and death Prednisone 2mg/kg/d x 4-7 weeks 30-40% [emilytam.com]

  Sudden abdominal pain and other symptoms can occur which are generally first thought to be related to abdominal disease such as irritable bowel syndrome or gastroenteritis. [epilepsywarriors.org]

  […] medicine) / 간경화(liver cirrhosis) / 간염(Hepatitis) / 간질(Epilepsy) / 갑상선암(Throid cancer) / 결막염(Conjunctivitis) / 결석(Calculus) / 결핵(Tuberculosis) / 골절(Fracture) 고혈압(Hypertension) / 고지혈증(Hyperlipidemia) / 골다공증(Osteoporosis) / 뇌경색(Cerebral infarction) 과민성대장증후군(Irritable [dic.impact.pe.kr]

• Dizziness

  The most important imitators of epileptic seizures are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium [books.google.de]

• Nystagmus

  See: palatal nystagmus. (05 Mar 2000) stimulus sensitive myoclonus Myoclonus induced by a variety of stimuli, e.g., talking, calculation, loud noises, tapping, etc. (05 Mar 2000) aggressive infantile fibromatosis A childhood counterpart of abdominal or [kmle.co.kr]

EEG is required to distinguish myoclonic seizures from nonictal causes of myoclonus, which can arise from lesions of the cortex, brainstem, spinal cord, or even peripheral nerve (see Workup). [emedicine.medscape.com]

Treatment with anticonvulsants is usually effective in controlling the attacks. BFIS results in generalized tonic-clonic and complex partial seizures that typically occur in clusters between 3-24 months of age. [genedx.com]

Tonic or atonic seizures First-line treatment: offer sodium valproate as first-line treatment. Adjunctive treatment: offer lamotrigine as adjunctive treatment if first-line treatment with sodium valproate is ineffective or not tolerated. [patient.info]

E for further details of pharmacological treatment. [nice.org.uk]

Management and treatment With anti-epileptic treatment (e.g. carbamazepine, valproate, phenobarbital), symptoms quickly disappear and no other type of epilepsy has been reported to reappear. [orpha.net]

Prognosis The prognosis depends heavily on the underlying etiology and the epilepsy syndrome. Patients with a benign syndrome typically respond well to medication and may outgrow their epilepsy. [emedicine.medscape.com]

AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. [ncbi.nlm.nih.gov]

Prognosis The prognosis for children with IS is largely dependent on the underlying cause. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms. [childneurologyfoundation.org]

Etiology Seizures associated with early myoclonic encephalopathy can be due to a number of etiologies. [emedicine.medscape.com]

Herein, the involvement of the SCN1B gene in the etiology of BFIE, contributing to the disease phenotype as a modifier or part of an oligogenic predisposition, is shown for the first time. Copyright © 2017 European Paediatric Neurology Society. [ncbi.nlm.nih.gov]

Dravet syndrome epilepsy etiology PCDH19 SCN1A seizure vaccination Accepted July 9, 2014. [pediatrics.aappublications.org]

[…] of Epilepsy Chapter 6: Epileptogenic Cerebral Cortical Malformations Chapter 7: Exploring the Epilepsiome I: Genetics of Age-Dependent Epileptic Encephalopathies Chapter 8: Exploring the Epilepsiome II: Approaching the Complex Epilepsies SECTION II: Epidemiology [connect.springerpub.com]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.ro]

The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. [books.google.de]

Summary Epidemiology Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown. In an Argentinian case series, BFIE have been listed as the third most common type of epilepsy in the first two years of life. [orpha.net]

In this chapter, we describe the wide clinical spectrum associated with PRRT2 mutations and present the current hypotheses on the underlying pathophysiology. [moh-it.pure.elsevier.com]

The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. [books.google.de]

As a result, chloride is efficiently pumped from the intracellular milieu, GABA begins to exert its conventional inhibitory action, and the primitive pattern is replaced by more diverse and elaborate patterns of activity. [34] The pathophysiology of benign [emedicine.medscape.com]

Add to Favorites Permissions Contents Untitled Contributors Preface SECTION I: Basic Mechanisms Chapter 1: Pathophysiology of Seizures in the Developing Brain Chapter 2: Ion Channels, Membranes, and Molecules in Epilepsy and Neuronal Excitability Chapter [connect.springerpub.com]

Genetic causes are not directly preventable. Causes are more often preventable as the infant or young child grows older. [childneurologyfoundation.org]

While this condition can be easily controlled by medication, it impacts on quality of life and may prevent people from participating in some activities. [news-medical.net]

Prevention There is no known way to prevent the onset of seizure disorders, but seizures may be controlled and sometimes prevented by the use of medication. [healthofchildren.com]

In addition, parents should also be aware that these drugs may prevent recurrences but do not alter the long-term prognosis for attaining seizure remission. [aafp.org]