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<span>Isolated lissencephaly sequence</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/isolated-lissencephaly-sequence/</span>
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<h1>Isolated lissencephaly sequence</h1>
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<div class="mp-exp exp-full" data-bookmark="description">
<h2>Description</h2>
<section><div class="mp-content"><p>Isolated lissencephaly sequence (ILS) is a condition that affects brain development before birth. Normally, the cells that make up the exterior of the brain (cerebral cortex) are well-organized, multi-layered, and arranged into many folds and grooves (gyri). In people with ILS, the cells of the cerebral cortex are disorganized, and the brain surface is abnormally smooth with an absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, these abnormalities impair brain growth, causing the brain to be smaller than normal (<a class="image-modal" data-alt="Side view photo of a man showing a small cranium and a sloping forehead" data-caption="Decreased size of the cranium is accompanied by marked posterior sloping of the forehead." data-credit="Elements of Morphology, National Human Genome Research Institute" data-filepath="images/PX0001G1_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001G1" data-sourceurl="https://elementsofmorphology.nih.gov/index.cgi?tid=8ae2118220c1308f" data-title="Microcephaly" href="https://medlineplus.gov/images/PX0001G1_PRESENTATION.jpeg" id="PX0001G1_1" title="Show image">microcephaly<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals with ILS.</p><p>More than 90 percent of individuals with ILS develop epilepsy, often within the first year of life. Up to 80 percent of infants with ILS have a type of seizure called infantile spasms, these seizures can be severe enough to cause brain dysfunction (epileptic encephalopathy). After the first months of life, most children with ILS develop <a class="image-modal" data-alt="An illustration of brain activity during a partial seizure and a generalized seizure. A partial seizure affects the activity in a region of the brain, while a generalized seizure affects the activity in the whole brain." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000OG_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000OG" data-sourceurl="" data-title="Brain activity during partial seizure and generalized seizure" href="https://medlineplus.gov/images/PX0000OG_PRESENTATION.jpeg" id="PX0000OG_2" title="Show image">a variety of seizure types<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, including persisting infantile spasms, short periods of loss of consciousness (absence seizures); sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures).</p><p>Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall. Hypotonia also affects the muscles used for breathing, which often causes breathing problems that can lead to a life-threatening bacterial lung infection known as aspiration pneumonia. Children with ILS often develop muscle stiffness (spasticity) in their arms and legs and an abnormal side-to-side curvature of the spine (<a class="image-modal" data-alt="Comparison of a normal spine, which is straight, with a spine with scoliosis, which curves side-to-side." data-caption="" data-credit="Alila Medical Media/Shutterstock.com" data-filepath="images/PX0000T0_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000T0" data-sourceurl="" data-title="Normal spine and spine with scoliosis" href="https://medlineplus.gov/images/PX0000T0_PRESENTATION.jpeg" id="PX0000T0_3" title="Show image">scoliosis<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). Rarely, the muscle stiffness will progress to paralysis (spastic paraplegia). Individuals with ILS cannot walk and rarely crawl. Most children with ILS do not develop communication skills.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>ILS affects approximately 1 in 100,000 newborns.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>Mutations in the <i><a data-pid="18277" href="https://medlineplus.gov/genetics/gene/pafah1b1/">PAFAH1B1</a></i>, <i><a data-pid="17831" href="https://medlineplus.gov/genetics/gene/dcx/">DCX</a></i>, or <i><a data-pid="19075" href="https://medlineplus.gov/genetics/gene/tuba1a/">TUBA1A</a></i> gene can cause ILS. <i>PAFAH1B1</i> gene mutations are responsible for over half of ILS cases; <i>DCX</i> gene mutations cause about 10 percent of cases; and <i>TUBA1A</i> gene mutations cause a small percentage of ILS. These genes provide instructions for making proteins that are involved in the movement (migration) of nerve cells (<a class="image-modal" data-alt="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-caption="Illustration of a nerve cell with a nucleus and cell body surrounded by multiple branching dendrites. A long axon, which extends from one dendrite, is covered by multiple myelin sheaths with uncovered regions between myelin sheaths known as nodes of Ranvier. At the end of the axon are axon terminals and nerve synapse. The direction of the nerve impulse goes from the dendrites down the axon and through the synapse." data-credit="Eunice Kennedy Shriver National Institute of Child Health and Human Development" data-filepath="images/PX0003IN_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0003IN" data-sourceurl="https://www.nichd.nih.gov/health/topics/neuro/conditioninfo/parts" data-title="Nerve cell (neuron)" href="https://medlineplus.gov/images/PX0003IN_PRESENTATION.jpeg" id="PX0003IN_4" title="Show image">neurons<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>) to their proper locations in the developing brain. Neuronal migration is dependent on cell structures called microtubules. Microtubules are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules form scaffolding within the cell that elongates in a specific direction, altering the cytoskeleton and moving the neuron. The protein produced from the <i>TUBA1A</i> gene is a component of microtubules. The proteins produced from the <i>DCX</i> and <i>PAFAH1B1</i> genes promote neuronal migration by interacting with microtubules.</p><p>Mutations in any of these three genes impair the function of microtubules and the normal migration of neurons during fetal development. As a result, the layers of <a class="image-modal" data-alt="A side view of the brain with various anatomical structures labeled." data-caption="" data-credit="National Institute on Aging/National Institutes of Health" data-filepath="images/PX000040_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000040" data-sourceurl="https://www.flickr.com/photos/nihgov/sets/72157663368688842" data-title="Side view of brain" href="https://medlineplus.gov/images/PX000040_PRESENTATION.jpeg" id="PX000040_5" title="Show image">the cerebral cortex<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> are disorganized and the normal folds and grooves of the brain do not form. This impairment of brain development leads to the smooth brain appearance and the resulting neurological problems characteristic of ILS.</p><p>Some individuals with ILS do not have an identified mutation in any of these three genes; the cause of the condition in these individuals may be unidentified mutations in other genes that affect neuronal migration or other unknown factors.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the genes associated with Isolated lissencephaly sequence</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/dcx/">DCX</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/pafah1b1/">PAFAH1B1</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/tuba1a/">TUBA1A</a></li>
<li><a href="https://medlineplus.gov/genetics/gene/tubb2b/">TUBB2B</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>The inheritance pattern of ILS depends on the gene involved.</p><p>When ILS is caused by mutations in the <i><a data-pid="18277" href="https://medlineplus.gov/genetics/gene/pafah1b1/">PAFAH1B1</a></i> or <i><a data-pid="19075" href="https://medlineplus.gov/genetics/gene/tuba1a/">TUBA1A</a></i> gene, it is inherited in an <a class="image-modal" data-alt="Neither parent has the mutated gene. A spontaneous mutation occurs during the formation of an egg or sperm cell during embryonic development, leading to an affected child." data-caption="
" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A8_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A8" data-sourceurl="" data-title="Autosomal dominant inheritance with a new (de novo) mutation" href="https://medlineplus.gov/images/PX0000A8_PRESENTATION.jpeg" id="PX0000A8_3" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.</p><p>When mutations in the <i><a data-pid="17831" href="https://medlineplus.gov/genetics/gene/dcx/">DCX</a></i> gene cause ILS, it is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the <i>DCX</i> gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the <i>DCX</i> gene in each cell can lead to a less severe condition in females called <a data-pid="16927" href="https://medlineplus.gov/genetics/condition/subcortical-band-heterotopia/">subcortical band heterotopia</a>, or may cause no symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Classical lissencephaly</li> <li>ILS</li> <li>LIS1</li> <li>Lissencephaly type 1</li> <li>Lissencephaly, classic</li> <li>Type 1 lissencephaly</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0431375/" target="TheNewWin">Genetic Testing Registry: Classic lissencephaly</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C4551968/" target="TheNewWin">Genetic Testing Registry: Lissencephaly type 1 due to doublecortin gene mutation</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C1969029/" target="TheNewWin">Genetic Testing Registry: Lissencephaly type 3</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/5049/index" target="TheNewWin">Classic lissencephaly</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Isolated lissencephaly sequence%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/300067" target="TheNewWin">LISSENCEPHALY, X-LINKED, 1; LISX1</a></li>
<li><a href="https://omim.org/entry/607432" target="TheNewWin">LISSENCEPHALY 1; LIS1</a></li>
<li><a href="https://omim.org/entry/611603" target="TheNewWin">LISSENCEPHALY 3; LIS3</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28isolated+lissencephaly+sequence%5BTIAB%5D%29+OR+%28classical+lissencephaly%5BTIAB%5D%29+OR+%28classic+lissencephaly%5BTIAB%5D%29+OR+%28type+1+lissencephaly%5BTIAB%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+1800+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>de Wit MC, de Rijk-van Andel J, Halley DJ, Poddighe PJ, Arts WF, de Coo IF,
Mancini GM. Long-term follow-up of type 1 lissencephaly: survival is related to
neuroimaging abnormalities. Dev Med Child Neurol. 2011 May;53(5):417-21. doi:
10.1111/j.1469-8749.2011.03937.x. Epub 2011 Mar 17. <a href="https://pubmed.ncbi.nlm.nih.gov/21410694" target="TheNewWin">Citation on PubMed</a></li>
<li>Dobyns WB. The clinical patterns and molecular genetics of lissencephaly and
subcortical band heterotopia. Epilepsia. 2010 Feb;51 Suppl 1:5-9. doi:
10.1111/j.1528-1167.2009.02433.x. No abstract available. <a href="https://pubmed.ncbi.nlm.nih.gov/20331703" target="TheNewWin">Citation on PubMed</a></li>
<li>Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerriere
A. Role of cytoskeletal abnormalities in the neuropathology and pathophysiology
of type I lissencephaly. Acta Neuropathol. 2011 Feb;121(2):149-70. doi:
10.1007/s00401-010-0768-9. Epub 2010 Nov 3. <a href="https://pubmed.ncbi.nlm.nih.gov/21046408" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3037170/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Guerrini R, Parrini E. Neuronal migration disorders. Neurobiol Dis. 2010
May;38(2):154-66. doi: 10.1016/j.nbd.2009.02.008. Epub 2009 Feb 23. <a href="https://pubmed.ncbi.nlm.nih.gov/19245832" target="TheNewWin">Citation on PubMed</a></li>
<li>Liu JS. Molecular genetics of neuronal migration disorders. Curr Neurol
Neurosci Rep. 2011 Apr;11(2):171-8. doi: 10.1007/s11910-010-0176-5. <a href="https://pubmed.ncbi.nlm.nih.gov/21222180" target="TheNewWin">Citation on PubMed</a></li>
<li>Saillour Y, Carion N, Quelin C, Leger PL, Boddaert N, Elie C, Toutain A,
Mercier S, Barthez MA, Milh M, Joriot S, des Portes V, Philip N, Broglin D,
Roubertie A, Pitelet G, Moutard ML, Pinard JM, Cances C, Kaminska A, Chelly J,
Beldjord C, Bahi-Buisson N. LIS1-related isolated lissencephaly: spectrum of
mutations and relationships with malformation severity. Arch Neurol. 2009
Aug;66(8):1007-15. doi: 10.1001/archneurol.2009.149. <a href="https://pubmed.ncbi.nlm.nih.gov/19667223" target="TheNewWin">Citation on PubMed</a></li>
<li>Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P. Neuronal
migration disorders: clinical, neuroradiologic and genetics aspects. Acta
Paediatr. 2009 Mar;98(3):421-33. doi: 10.1111/j.1651-2227.2008.01160.x. Epub 2008
Dec 16. <a href="https://pubmed.ncbi.nlm.nih.gov/19120042" target="TheNewWin">Citation on PubMed</a></li>
<li>Tian G, Jaglin XH, Keays DA, Francis F, Chelly J, Cowan NJ. Disease-associated
mutations in TUBA1A result in a spectrum of defects in the tubulin folding and
heterodimer assembly pathway. Hum Mol Genet. 2010 Sep 15;19(18):3599-613. doi:
10.1093/hmg/ddq276. Epub 2010 Jul 5. <a href="https://pubmed.ncbi.nlm.nih.gov/20603323" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928131/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Verrotti A, Spalice A, Ursitti F, Papetti L, Mariani R, Castronovo A,
Mastrangelo M, Iannetti P. New trends in neuronal migration disorders. Eur J
Paediatr Neurol. 2010 Jan;14(1):1-12. doi: 10.1016/j.ejpn.2009.01.005. Epub 2009
Mar 4. <a href="https://pubmed.ncbi.nlm.nih.gov/19264520" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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