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]

Abstract We reported a 15-year-old boy with idiopathic hypoparathyroidism who presented with paroxysmal kinesigenic choreoathetosis at age 10. Calcium levels were low and intact parathyroid hormones were undetectable in serum. [wwww.unboundmedicine.com]

• Suggestibility

  The unusual phenotype displayed by one homozygous patient suggests that variability of the ICCA syndrome could be sustained by genetic modifiers. [ncbi.nlm.nih.gov]

  The unusual phenotype displayed by one homozygous patient suggests that variability of the ICCA syndrome could be sustained by genetic modifiers [1]. [wikigenes.org]

  This observation suggests that the mutation observed in our study is potentially a founder mutation. [nature.com]

  Key clinical points will be listed at the end of the chapter, along with a list of suggested further reading. All case studies in this book are based on real patients seen by the authors or their colleagues. [books.google.com]

  Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet. 2001 Mar;68(3):788-94. [carpedb.ua.edu]

• Facial Grimacing

  These episodes were described soon after choreoatheoid posturing of both upper extremities and facial grimacing. At rest, she would first experience brief premonitory sensations of “movement” in both shoulders. [doi.org]

• Depressed Nasal Bridge

  nasal bridge, related diseases and genetic alterations [mendelian.co]

• Abnormal Involuntary Movement

  Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]: An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. [genecards.org]

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

• Choreoathetoid Movements

  Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012 ).For discussion of genetic heterogeneity of alternating [mendelian.co]

• 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]

• EEG Suppression

  / Epilepsy Research 70S (2006) S174S184manifested unilateral EEG suppression at the onset ofhis attacks. [documents.tips]

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]

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

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

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]

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]

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

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]

Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. [neurology.org]

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]