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]

• Movement Disorder

  These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. [ncbi.nlm.nih.gov]

  It will also help with early diagnosis and appropriate treatment of the movement disorder. [news-medical.net]

  Background: Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by recurrent dystonic or choreoathetoid attacks triggered by sudden voluntary movements. [medical-dictionary.thefreedictionary.com]

  These findings show that mutations in PRRT2 causes both epilepsy and a movement disorder. [frankhimpslarchive.com]

  Episodic movement disorders are known to occur in conjunction with familial infantile seizures. [epilepsygenetics.net]

• Family History of Arthritis

  및 기타 만성적 하부 호흡기 질환의 가족력(Family history of asthma and other chronic lower respiratory diseases) J40-J47에 분류되는 병태(Conditions classifiable to J40-J47) Z82.6 관절염 및 기타 근골격계 및 결합조직 질환의 가족력(Family history of arthritis and other diseases of the musculoskeletal [dic.impact.pe.kr]

• Family History of Deafness

  history of blindness and visual loss) H54.- 에 분류되는 병태(Conditions classifiable to H54.-) Z82.2 귀머거리 및 청력상실의 가족력(Family history of deafness and hearing loss) H90-H91에 분류되는 병태(Conditions classifiable to H90-H91) Z82.3 뇌졸중의 가족력(Family history of stroke) [dic.impact.pe.kr]

• Hoarseness

  These may include, but are not limited to, the following: Hoarseness Pain or discomfort in the throat Change in voice More information regarding the child with seizures or epilepsy Make sure you and your child (if age appropriate) understand the type [texaschildrens.org]

• 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]

• Visual Impairment

  Visual symptoms include (1) transient, partial, or complete loss of vision, (2) elementary or complex visual hallucinations, and (3) visual illusions (eg, micropsia, metamorphosis). [emedicine.medscape.com]

• Abnormal Behavior

  Your child may look awake but have a variety of abnormal behaviors. 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]

  Seizures are caused by abnormal and excessive discharges of neurons, usually self-limited, and often accompanied by abnormal behavior, and sensory-motor manifestations [1]. [ijponline.biomedcentral.com]

• Ganser Syndrome

  심인성 귀머거리(Psychogenic deafness) F44.7 혼합형 해리[전환] 장애(Mixed dissociative [conversion] disorders)(F44.0-F44.6에 분류된 장애의 복합) F44.8 기타 해리[전환]장애(Other dissociative [conversion] disorders) 간저 증후군(Ganser's syndrome) 다중 인격증(Multiple personality) 심인성 혼돈(Psychogenic [dic.impact.pe.kr]

• Aphasia

  선천성 청각성 지각부전(Congenital auditory imperception) 발달성 수용형 실어증 또는 부전실어증(Developmental dysphasia or aphasia, receptive type) 발달성 베르니케 실어증(Developmental Wernicke's aphasia) 단어농(單語聾)(Word deafness) 제외 : 간질이 수반된 후천성 실어증[란다우-클레프너](acquired aphasia with epilepsy [dic.impact.pe.kr]

  Epileptic encephalopathy GABRB3 Epileptic encephalopathy 23934111,26645412 GABRG2 Epileptic encephalopathy, Dravet-like 11326275 GNAO1 Epileptic encephalopathy 23993195 GRIN1 Early infantile epileptic encephalopathy 25864721,26933583 GRIN2A Epilepsy aphasia [tests.labmed.washington.edu]

  If the disorder affects the left side of the brain, which controls most language tasks, the child may experience language loss, called aphasia. [nyulangone.org]

  […] encephalopathy-related disorders – depending on the major symptoms in the initial case – includes the following diseases: Benign childhood epilepsy Complex partial seizures Epilepsia partialis continua Generalized tonic-clonic seizures Autism Acquired epileptic aphasia [centogene.com]

  Clinical features: 75% have febrile seizures only, 25% also GTC, absence, myoclonic, tonic EEG findings: normal background, ictal changes depend on seizure type Outcome: seizures remit usually by age 12 years Landau-Kleffner Syndrome Acquired epileptic aphasia [emilytam.com]

• Amnesia

  제외：알콜성 또는 기타 정신활성물질 유발성 기억상실 장애(alcohol- or other psychoactive substance-induced amnesic disorder)(4단위 항목.6에 해당되는 F10-F19) 기억상실(amnesia) NOS(R41.3) 선행성 기억상실(anterograde amnesia)(R41.1) 역행성 기억상실(retrograde amnesia)(R41.2) 비알콜성 기질적 기억상실 증후군(nonalcoholic [dic.impact.pe.kr]

  […] are dizziness, vertigo, syncope, complicated migraine; and somewhat less frequently sleep disorders, transient cerebral ischemia, paroxysmal movement disorders, endocrine or metabolic dysfunction, delirium, psychiatric conditions or transient global amnesia [books.google.de]

  Other features include (1) absence of psychic symptoms, (2) rarity of complex automatisms, and (3) absence of amnesia and postictal confusion states. [emedicine.medscape.com]

• Apraxia

  […] epileptic encephalopathy, ferro-cerebro-cutaneous syndrome 26993267,24259288,24706016 PLCB1 Epilepsy with migrating focal seizures in infancy (EMFSI); epileptic encephalopathy; AR inheritance, deletions reported 22690784,26818157 PNKP Ataxia with Oculomotor Apraxia [tests.labmed.washington.edu]

  […] retardation autosomal dominant; EJM – Juvenile myoclonic epilepsy; ECA – Childhood absence epilepsy; BFNS – Benign familial neonatal seizures; ENFL – Epilepsy nocturnal frontal lobe; PNH - Paroxysmal nocturnal hemoglobinuria; AOA – Ataxia-oculomotor apraxia [centogene.com]

  […] speech articulation disorder) 구어 장애(Dyslalia) 기능적 언어 구음 장애(Functional speech articulation disorder) 발음 혼동(요설:饒舌)(Lalling) 제외 : 실어증(에 의한) 언어 구음장애(speech articulation impairment(due to) aphasia) NOS 실행증(에 의한) 언어 구음장애(speech articulation impairment(due to) apraxia [dic.impact.pe.kr]

• Mild Cognitive Impairment

  Ronen et al reported that 7% of patients had learning disabilities or mild cognitive impairments. [3] Go to Benign Neonatal Convulsions for complete information on this topic. [emedicine.medscape.com]

• Language Delays

  In particular, the more telomeric deletion/duplication events reported at 16p11.2 in other patients with various phenotypes such as autism, schizophrenia, speech/language delay, obesity, or epileptic seizures [24] – [29] were not found. [journals.plos.org]

  delay due to deafness)(H90-H91) 정신 발육지체(mental retardation)(F70-F79) F80.3 간질에 의한 후천성 실어증[란다우-클레프너](Acquired aphasia with epilepsy [Landau-Kleffner]) 정상 언어발달을 보이던 아동이 수용형, 표현형 언어 숙련도를 상실하나 전반적 지적능력은 유지된 다. [dic.impact.pe.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]