Clinical manifestations of seizures always started when ictal discharges were present in outer and heterotopic cortices. [ncbi.nlm.nih.gov]

Only the present case showed the mixture pattern of missense mutation (c. 167G>C) and normal sequence of DCX gene indicating that the present case resulted from somatic mosaicism of de novo DCX mutation. [ci.nii.ac.jp]

• Epilepsy

  Deep brain stimulation of the anterior nuclei of the thalamus has been used for the treatment of refractory epilepsy with good results. [ncbi.nlm.nih.gov]

• Disability

  Abnormal development of the cerebral cortex in humans results in epilepsy, autism, intellectual disability, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. [rarediseases.info.nih.gov]

  Some patients, however, have only minor disabilities 5. The majority of band heterotopia syndrome cases have now been attributed to an abnormality of the DCX gene (also known as XLIS gene) located on the long arm of chromosome X. [radiopaedia.org]

  The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side [ghr.nlm.nih.gov]

  The most common clinical manifestations are seizures, intellectual disability, and spastic hemiplegia or diplegia. Treatment of polymicrogyria is supportive. Click here for Patient Education [merckmanuals.com]

• Developmental Delay

  At the age of 1 year the patient had severe developmental delay and epilepsy. Chromosome studies and mutation analysis of the DCX and LIS1 genes gave negative results. [ncbi.nlm.nih.gov]

  Male patients with DCX mutations generally present with the classical type of lissencephaly, severe developmental delay, and intractable epilepsy. However, somatic mosaic mutation of DCX can lead to SBH in males. [ci.nii.ac.jp]

• Asymptomatic

  Low level mosaicism could be a cause of inherited risk from asymptomatic parents for DCX related lissencephaly-subcortical band heterotopia spectrum. [ncbi.nlm.nih.gov]

• Long Arm

  The majority of band heterotopia syndrome cases have now been attributed to an abnormality of the DCX gene (also known as XLIS gene) located on the long arm of chromosome X. [radiopaedia.org]

• Seizure

  At these times, both showed a >50% decrease in seizure frequency and an increase in seizure freedom. Both patients had a depressive syndrome after surgery that responded fully to anti-depressive medication in one patient and partly in the other. [ncbi.nlm.nih.gov]

  […] of the brain (focal seizures). [ghr.nlm.nih.gov]

• Generalized Seizure

  The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. [ncbi.nlm.nih.gov]

  The signs and symptoms can vary from severe intellectual disability and seizures that begin early in life and affect both sides of the brain (generalized seizures) to normal intelligence with seizures occurring later in life and affecting only one side [ghr.nlm.nih.gov]

• Behavior Problem

  Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as using utensils, or behavioral problems. [ghr.nlm.nih.gov]

• Focal Seizure

  […] of the brain (focal seizures). [ghr.nlm.nih.gov]

• Ataxia

  Showing of 18 | Percent of people who have these symptoms is not available through HPO Agenesis of corpus callosum 0001274 Agyria 0031882 Ataxia 0001251 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Dysarthria Difficulty articulating [rarediseases.info.nih.gov]

Deep brain stimulation of the anterior nuclei of the thalamus has been used for the treatment of refractory epilepsy with good results. [ncbi.nlm.nih.gov]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment of polymicrogyria is supportive. Click here for Patient Education [merckmanuals.com]

Treatment and prognosis Treatment is symptomatic and usually targeted at controlling epilepsy. Related articles: Malformations of the central nervous system Promoted articles (advertising) [radiopaedia.org]

Baraitser-Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. [ncbi.nlm.nih.gov]

Epidemiology of lissencephaly type 1. Neuroepidemiology 1991.10: 200-4. Guerrini R and Filippi T. Neuronal migration disorders, genetics and epileptogenesis. J Child neurol. 2005;20. 287-299. Dobyns WB, Reiner O, Carrozzo R, Ledbetter DH. [malattierare.toscana.it]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]