Genetic counseling ICCA syndrome can present as sporadic or familial; in the latter case, it is transmitted as an autosomal dominant trait that can be variably expressed within the same family. [orpha.net]

Since the first report similar clinical presentations have been published which confirm the specificity of the ICCA syndrome. [en.wikipedia.org]

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.com]

At age of9 years, he presented episodes with pallor, sweating,and proximal, irregular, not-stereotyped and arrhythmicinvoluntary movements resembling ballism, followed bychoreiform movements and dystonic postures of thetrunk. [docslide.com.br]

• Epilepsy

  Statistics from Altmetric.com The human epilepsies can be broadly divided into two main categories: the symptomatic epilepsies that arise from separate brain lesions or disorders; and the idiopathic epilepsies, which have a strong genetic component. [doi.org]

  Tests Available Infantile Epilepsy Panel Epilepsy Deletion/Duplication Panel Forms and Documents Test Details Genes: Expand Genes ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA7, CLCN4 [genedx.com]

  Moreover his work on establishing the syndromic diagnosis of epilepsies and the appropriate video-EEG methodology for their diagnosis, has been regarded by some as ground breaking and he is recognised as one the leading authorities on epilepsy. [books.google.com]

• Diarrhea

  CwG is a well-recognized infant seizure disorder associated with mild diarrhea. [bmcneurol.biomedcentral.com]

• Convulsions

  Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. [ncbi.nlm.nih.gov]

  […] of infantile convulsions with paroxysmal choreoathetosis (ICCA). [eurekamag.com]

  Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an autosomal dominant mode of inheritance. [en.wikipedia.org]

• Seizure

  Typical seizures are brief with motor arrest, deviation of the head and eyes to one side, generalised hypertonia, cyanosis, and limb jerks. Seizures are focal with or without secondary generalisation and usually occur in clusters. [doi.org]

  Some individuals may experience both PKD and seizures while others exhibit PKD or seizures only. [genedx.com]

  Clinical description Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. Seizures are afebrile, partial or sometimes generalized, and normally disappear after the first year of life. [orpha.net]

  SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5;bfic5 Related symptoms: Autosomal dominant inheritance Seizures Dystonia Dyskinesia Febrile seizures SOURCES: OMIM MONDO UMLS More info about SEIZURES [mendelian.co]

  […] by unilateral jerks.In some cases, seizures generalized secondarily. [en.wikipedia.org]

• Dystonia

  She has received many awards, among others the European Dystonia Society David Marsden Award and the AAN Jon Stolk Award in Movement Disorders for Young Investigators. [books.google.com]

  Clinical features can include dystonia, parkinsonism, gait abnormalities, psychosis, dementia, and chorea. [mendelian.co]

  Studies have begun, and in cerebral palsy patients affected with dystonia- choreoathetosis, it has been demonstrated that neurostimulation has been an effective treatment in lessening symptoms in patients. [eng.ichacha.net]

  Differential diagnosis Differential diagnosis includes other paroxysmal dystonias such as paroxysmal exertion-induced dyskinesia and paroxysmal non-kinesigenic dyskinesia (see these terms) triggered by drugs or food intake (such as caffeine and alcohol [orpha.net]

  They are characterised by episodes of involuntary abnormal movements (dyskinesia) that correspond to attacks of choreoathetosis or dystonia. [doi.org]

• Ataxia

  The association with other paroxysmal disorders such as migraine, with or without aura, hemiplegic migraine, episodic ataxia and tics has also been described. Psychomotor development is normal. [orpha.net]

  […] migraine type 1 (FHM1), and spinocerebellar ataxia type 6 (SCA6). [touchneurology.com]

  Examples include: mutations of the KCNA1 potassium channel subunit gene in epilepsy with episodic ataxia type 1 39 ; rare mutations within the ATP1A2 sodium/potassium pump subunit gene in familial hemiplegic migraine, associated or not with infantile [doi.org]

  Episodic ataxias Episodic ataxias are rare autosomal dominant disorders divided into two major categories: episodic ataxia type 1 (EA1) and 2 (EA2) both of which are channelopathies in which a movement disorder and epilepsy may co-exist. [epilepsydiagnosis.org]

• Focal Seizure

  Stereotypy Behavioral abnormality Focal seizures, afebril Autosomal recessive inheritance Parkinsonism Muscular hypotonia Adult onset Self-injurious behavior Tetraplegia Apnea Tetraparesis Status epilepticus Progressive spasticity Spastic diplegia Impulsivity [mendelian.co]

  At 6 months ofage, he had a cluster of focal seizures, lasting 3040 s,successfully treated with phenobarbital. [docslide.com.br]

  benign familial infantile seizures with familial hemiplegic migraine ( Terwindt et al 1997 ; Vanmolkot et al 2003 ; Marini et al 2012 ), benign infantile seizures with mild gastroenteritis ( Caraballo et al 2009 ), and benign infantile focal seizures [medlink.com]

  The seizure-like event may include movement or impaired awareness, and can imitate focal motor seizures or focal impaired awareness seizures. [epilepsydiagnosis.org]

  PRRT2 is the long-sought gene for Benign Familial Infantile Seizures (BFIS), an infantile, self-limiting epilepsy that is often characterized by focal seizures. [epilepsygenetics.net]

• Normal Interictal EEG

  interictal EEG Basal ganglia calcification Acrania Cerebral calcification Memory impairment Dementia Hallucinations Slurred speech Visual hallucinations Neurological speech impairment Focal seizures with impairment of consciousness or awareness Cyanosis [mendelian.co]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

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]

[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Risk and treatment management includes, but is not limited to [6] : For ALDH7A1 related pyridoxine-dependent epilepsy and PNPO related pyridoxamine 5′-phosphate oxidase deficiency: Treatment Pyridoxine should be used For KCNQ2 related early infantile [swisscheckup.com]

Prognosis ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Neurologists and paediatricians should be familiar with these conditions because accurate diagnosis, and its consequent good prognosis, may save much suffering to the family. [books.google.com]

Prognosis ICCA has a good outcome. Without treatment, dyskinetic attacks tend to disappear during adulthood. Last updated: 7/1/2013 [rarediseases.info.nih.gov]

Accurate diagnosis is very important as it is amenable to low-dose anticonvulsant treatment and in general of good prognosis. In agreement with other studies, our family may not be related to SLC5A11 gene mutation. [ashg.org]

Etiology The genetic loci of ICCA syndrome have been described on chromosomes 16p11.2-q12.1, 16q13-q22.1 and 3q29-29. [orpha.net]

Considering our findings and those reported in literature, 23 PRRT2 mutations explain similar to 56% of the families analyzed.Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile [rug.nl]

PRRT2 mutations are the major cause of PKD or ICCA, but they are not involved in the etiology of febrile convulsions and migraine. [pediatricneurologybriefs.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.com]

Summary Epidemiology This disorder is rare but the exact prevalence is unknown. Clinical description Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. [orpha.net]

Epidemiology This disorder is rare but the exact prevalence is unknown. Clinical description Benign familial infantile epilepsy begins at 3 to 12 months of age with a family history of the same type of seizures. [rarediseases.info.nih.gov]

Common clinical features, epidemiological studies, shared therapeutic strategies, and familial co-inheritance all argue in favour of close relationships between various epileptic syndromes and other paroxysmal disorders of the brain, 35 such as migraine [doi.org]

The pathophysiology of PD remains largely unknown. [doi.org]

Alterations of ion channel and ion pump subunits could provide a simple, albeit probably non-unique, explanation for the pathophysiology of the link between epilepsy and PD. [ncbi.nlm.nih.gov]

[…] attacksfrequently, last from seconds to less thanare induced by sudden voluntary move-le PDC attacks last an hour or more, occurntly, and are precipitated by fatigue, alcohol(Goodenough et al., 1978; Sadamatsu et al.,h the clinical features of PKC are wellthe pathophysiology [documents.tips]

Evidence for shared pathophysiologic mechanisms underlying the concurrence of benign infantile convulsions (IC) and of PKD in the same patients or families was obtained [ 8, 13 ]. [mdpi.com]

It is considered a migraine variant as there is often a family history of migraine headache, though the pathophysiology is not well understood. Usually no trigger to a particular episode can be defined. [epilepsydiagnosis.org]

The retained awareness and history of triggers should prevent misdiagnosis as focal seizures. [epilepsydiagnosis.org]